HIF1A variants in ExAC

HIF1A gene summary
HIF1A variants in

The table below lists the HIF1A variants found in the ExAC population database. Click on each variant for more details, including presence in the 1000 Genomes and Exome Sequencing Project databases, a breakdown by ethnic class and the variant's role in inherited cardiac disease. Use the form below to customise the variant selection. The table can be sorted by variant location, variant type or ExAC frequency.




No. Genomic coord.✝ Variant (CDS)▼ Variant (Protein) Variant Type▼ ExAC frequency▼Populations*
1. 62207557 c.1744C>T p.P582S missense 0.08965551●●●●●●
2. 62207575 c.1762G>A p.A588T missense 0.00974449●●●●●●
3. 62204819 c.1264G>T p.D422Y missense 0.00424731●●●●●●
4. 62204808 c.1253C>T p.T418I missense 0.00383009●●●●●●
5. 62203623 c.1045G>A p.D349N missense 0.00197100●●●●●●
6. 62187212 c.148G>C p.V50L missense 0.00182127●●●●●●
7. 62199133 c.774-3C>T splice site 0.00147941●●●●●●
8. 62204978 c.1423G>T p.A475S missense 0.00055288●●●●●●
9. 62207893 c.2080G>A p.A694T missense 0.00043978●●●●●●
10. 62188298 c.298G>A p.V100I missense 0.00018135●●●●●●
11. 62207879 c.2066A>C p.N689T missense 0.00015788●●●●●●
12. 62204853 c.1298A>G p.D433G missense 0.00014309●●●●●●
13. 62207848 c.2035C>G p.Q679E missense 0.00010732●●●●●●
14. 62207873 c.2060G>A p.S687N missense 0.00009124●●●●●●
15. 62207731 c.1918G>C p.A640P missense 0.00009062●●●●●●
16. 62213683 c.2361G>C p.M787I missense 0.00007440●●●●●●
17. 62194352 c.752A>G p.K251R missense 0.00007421●●●●●●
18. 62207708 c.1895T>C p.M632T missense 0.00007414●●●●●●
19. 62193541 c.570+5G>A splice site 0.00006322●●●●●●
20. 62187281 c.217C>A p.L73M missense 0.00005801●●●●●●
21. 62162565 c.35+8C>T splice site 0.00005631●●●●●●
22. 62162565 c.35+8C>A splice site 0.00005631●●●●●●
23. 62204877 c.1322A>G p.E441G missense 0.00004973●●●●●●
24. 62194346 c.746A>C p.D249A missense 0.00004947●●●●●●
25. 62203643 c.1065A>T p.Q355H missense 0.00004944●●●●●●
26. 62207590 c.1777G>A p.A593T missense 0.00004942●●●●●●
27. 62199179 c.817C>T p.R273C missense 0.00004130●●●●●●
28. 62207590 c.1777G>C p.A593P missense 0.00004118●●●●●●
29. 62193454 c.488C>T p.T163I missense 0.00003330●●●●●●
30. 62204871 c.1316C>T p.P439L missense 0.00003322●●●●●●
31. 62188314 c.314A>G p.D105G missense 0.00003297●●●●●●
32. 62213741 c.2419C>A p.Q807K missense 0.00003297●●●●●●
33. 62194221 c.621A>C p.Q207H missense 0.00003296●●●●●●
34. 62212436 c.2230C>T p.H744Y missense 0.00003296●●●●●●
35. 62203827 c.1249G>A p.D417N missense 0.00002638●●●●●●
36. 62205072 c.1517C>T p.T506I missense 0.00002561●●●●●●
37. 62211428 c.2099C>T p.T700I missense 0.00002549●●●●●●
38. 62205062 c.1507G>A p.D503N missense 0.00002541●●●●●●
39. 62207226 c.1540A>G p.N514D missense 0.00002520●●●●●●
40. 62201004 c.1028+1_1028+4delGTAA essential splice site 0.00002496●●●●●●
41. 62199249 c.880+7A>G splice site 0.00002490●●●●●●
42. 62207869 c.2056A>G p.R686G missense 0.00002485●●●●●●
43. 62187147 c.83C>A p.S28Y missense 0.00002479●●●●●●
44. 62207844 c.2031A>G p.I677M missense 0.00002477●●●●●●
45. 62203617 c.1039C>G p.Q347E missense 0.00002476●●●●●●
46. 62188251 c.251T>G p.M84R missense 0.00002475●●●●●●
47. 62207816 c.2003C>T p.S668L missense 0.00002473●●●●●●
48. 62188355 c.355T>C p.Y119H missense 0.00002473●●●●●●
49. 62187203 c.139C>A p.P47T missense 0.00002472●●●●●●
50. 62203669 c.1091T>C p.V364A missense 0.00002472●●●●●●
51. 62207537 c.1724G>A p.R575H missense 0.00002472●●●●●●
52. 62194198 c.598G>A p.V200I missense 0.00002472●●●●●●
53. 62207705 c.1892G>A p.R631H missense 0.00002471●●●●●●
54. 62162547 c.25G>A p.D9N missense 0.00002201●●●●●●
55. 62162529 c.7G>A p.G3S missense 0.00002132●●●●●●
56. 62162529 c.7_15delGGCGCCGGC p.Gly3_Gly5del inframe 0.00002116●●●●●●
57. 62204812 c.1257A>C p.E419D missense 0.00001767●●●●●●
58. 62203826 c.1248C>T splice site 0.00001752●●●●●●
59. 62188524 c.440T>C p.M147T missense 0.00001715●●●●●●
60. 62187108 c.44C>T p.S15F missense 0.00001703●●●●●●
61. 62207350 c.1659+5A>G splice site 0.00001687●●●●●●
62. 62213802 c.2480G>A nonsense 0.00001673●●●●●●
63. 62193460 c.494G>A p.R165Q missense 0.00001663●●●●●●
64. 62212529 c.2323C>T p.P775S missense 0.00001661●●●●●●
65. 62204892 c.1337T>G p.I446R missense 0.00001655●●●●●●
66. 62213681 c.2359A>G p.M787V missense 0.00001654●●●●●●
67. 62207258 c.1572T>G p.D524E missense 0.00001654●●●●●●
68. 62207266 c.1580T>C p.M527T missense 0.00001653●●●●●●
69. 62204921 c.1366G>A p.A456T missense 0.00001652●●●●●●
70. 62203618 c.1040A>G p.Q347R missense 0.00001651●●●●●●
71. 62205002 c.1447G>C p.E483Q missense 0.00001651●●●●●●
72. 62213688 c.2366A>C p.E789A missense 0.00001651●●●●●●
73. 62204976 c.1421T>C p.V474A missense 0.00001650●●●●●●
74. 62207730 c.1917T>G p.I639M missense 0.00001648●●●●●●
75. 62203691 c.1113G>A p.M371I missense 0.00001648●●●●●●
76. 62203669 c.1091T>A p.V364D missense 0.00001648●●●●●●
77. 62207729 c.1916T>G p.I639S missense 0.00001648●●●●●●
78. 62207608 c.1795G>A p.V599I missense 0.00001647●●●●●●
79. 62188547 c.457+6A>G splice site 0.00000914●●●●●●
80. 62204810 c.1255G>C p.E419Q missense 0.00000885●●●●●●
81. 62188532 c.448C>A p.H150N missense 0.00000876●●●●●●
82. 62193416 c.458-8T>C splice site 0.00000872●●●●●●
83. 62204827 c.1272A>C p.Q424H missense 0.00000866●●●●●●
84. 62188525 c.441G>A p.M147I missense 0.00000860●●●●●●
85. 62207466 c.1660-7T>C splice site 0.00000852●●●●●●
86. 62204841 c.1286C>G p.P429R missense 0.00000852●●●●●●
87. 62205069 c.1514G>A p.S505N missense 0.00000851●●●●●●
88. 62207469 c.1660-4A>C splice site 0.00000851●●●●●●
89. 62200849 c.881-7C>T splice site 0.00000850●●●●●●
90. 62193426 c.460_461insTTGTGAAAAAGGGTA p.Leu154_Val155insValLysLysGlyIle inframe 0.00000849●●●●●●
91. 62207220 c.1537-3C>T splice site 0.00000848●●●●●●
92. 62187111 c.47A>C p.E16A missense 0.00000847●●●●●●
93. 62207890 c.2077G>A p.V693I missense 0.00000845●●●●●●
94. 62200853 c.881-3delT splice site 0.00000845●●●●●●
95. 62207349 c.1659+4T>C splice site 0.00000844●●●●●●
96. 62207223 c.1537C>T p.P513S missense 0.00000844●●●●●●
97. 62207225 c.1539T>C splice site 0.00000841●●●●●●
98. 62207343 c.1657C>G p.Q553E missense 0.00000840●●●●●●
99. 62204856 c.1301T>C p.V434A missense 0.00000839●●●●●●
100. 62207227 c.1541A>G p.N514S missense 0.00000839●●●●●●
101. 62205051 c.1496C>G p.P499R missense 0.00000839●●●●●●
102. 62213661 c.2339G>A p.C780Y missense 0.00000838●●●●●●
103. 62193499 c.533G>A p.R178Q missense 0.00000835●●●●●●
104. 62213798 c.2476A>G p.N826D missense 0.00000835●●●●●●
105. 62211440 c.2111A>T p.E704V missense 0.00000834●●●●●●
106. 62187298 c.226+8A>G splice site 0.00000834●●●●●●
107. 62207331 c.1645C>T p.P549S missense 0.00000833●●●●●●
108. 62193452 c.486C>A p.N162K missense 0.00000833●●●●●●
109. 62207881 c.2068G>A p.V690M missense 0.00000833●●●●●●
110. 62193458 c.492G>C p.Q164H missense 0.00000832●●●●●●
111. 62204867 c.1312T>C p.S438P missense 0.00000832●●●●●●
112. 62193458 c.492G>T p.Q164H missense 0.00000832●●●●●●
113. 62199131 c.774-5A>G splice site 0.00000832●●●●●●
114. 62193454 c.488C>G p.T163R missense 0.00000832●●●●●●
115. 62203803 c.1225A>G p.I409V missense 0.00000831●●●●●●
116. 62204870 c.1315C>T p.P439S missense 0.00000831●●●●●●
117. 62204874 c.1319A>G p.N440S missense 0.00000830●●●●●●
118. 62188475 c.391A>C p.S131R missense 0.00000830●●●●●●
119. 62187286 c.222T>A p.D74E missense 0.00000830●●●●●●
120. 62207245 c.1559G>A p.C520Y missense 0.00000829●●●●●●
121. 62199243 c.880+1G>A essential splice site 0.00000829●●●●●●
122. 62204876 c.1321G>A p.E441K missense 0.00000829●●●●●●
123. 62199141 c.779C>T p.T260I missense 0.00000829●●●●●●
124. 62207247 c.1561T>A p.F521I missense 0.00000829●●●●●●
125. 62207317 c.1631C>G p.T544R missense 0.00000829●●●●●●
126. 62199141 c.779C>A p.T260N missense 0.00000829●●●●●●
127. 62207314 c.1628_1629delAC p.Thr544ArgfsTer26 frameshift 0.00000828●●●●●●
128. 62207253 c.1567G>T p.V523L missense 0.00000828●●●●●●
129. 62199143 c.781G>A p.E261K missense 0.00000828●●●●●●
130. 62194381 c.773+8A>G splice site 0.00000828●●●●●●
131. 62204882 c.1327T>G p.L443V missense 0.00000828●●●●●●
132. 62212514 c.2308A>G p.T770A missense 0.00000828●●●●●●
133. 62211530 c.2201T>C p.I734T missense 0.00000828●●●●●●
134. 62188453 c.373-4A>G splice site 0.00000828●●●●●●
135. 62204889 c.1334A>C p.N445T missense 0.00000828●●●●●●
136. 62187275 c.211A>C p.K71Q missense 0.00000827●●●●●●
137. 62199218 c.856C>T p.H286Y missense 0.00000827●●●●●●
138. 62211460 c.2131C>A p.L711I missense 0.00000827●●●●●●
139. 62204900 c.1345G>A p.A449T missense 0.00000827●●●●●●
140. 62199150 c.788T>C p.M263T missense 0.00000827●●●●●●
141. 62207259 c.1573A>G p.S525G missense 0.00000827●●●●●●
142. 62205027 c.1472T>C p.M491T missense 0.00000827●●●●●●
143. 62199151 c.789G>A p.M263I missense 0.00000827●●●●●●
144. 62211457 c.2128A>G p.I710V missense 0.00000827●●●●●●
145. 62207264 c.1578T>G p.D526E missense 0.00000827●●●●●●
146. 62211458 c.2129T>C p.I710T missense 0.00000827●●●●●●
147. 62205017 c.1462T>A p.S488T missense 0.00000826●●●●●●
148. 62204918 c.1363A>T p.T455S missense 0.00000826●●●●●●
149. 62211509 c.2180C>T p.S727L missense 0.00000826●●●●●●
150. 62187149 c.85C>T p.R29W missense 0.00000826●●●●●●
151. 62211473 c.2144A>G p.N715S missense 0.00000826●●●●●●
152. 62211464 c.2135C>G p.A712G missense 0.00000826●●●●●●
153. 62187265 c.201G>T p.L67F missense 0.00000826●●●●●●
154. 62205011 c.1456G>C p.E486Q missense 0.00000826●●●●●●
155. 62204907 c.1352C>T p.S451F missense 0.00000826●●●●●●
156. 62211471 c.2142G>C p.Q714H missense 0.00000826●●●●●●
157. 62187267 c.203G>A p.R68H missense 0.00000826●●●●●●
158. 62199180 c.818G>A p.R273H missense 0.00000826●●●●●●
159. 62203788 c.1210G>A p.A404T missense 0.00000826●●●●●●
160. 62199182 c.820T>C p.S274P missense 0.00000826●●●●●●
161. 62205011 c.1456G>A p.E486K missense 0.00000826●●●●●●
162. 62204910 c.1355C>T p.P452L missense 0.00000826●●●●●●
163. 62211471 c.2142G>T p.Q714H missense 0.00000826●●●●●●
164. 62211502 c.2173G>T p.D725Y missense 0.00000826●●●●●●
165. 62188252 c.252G>C p.M84I missense 0.00000825●●●●●●
166. 62213702 c.2380C>T p.Q794X nonsense 0.00000825●●●●●●
167. 62187254 c.190A>G p.I64V missense 0.00000825●●●●●●
168. 62212488 c.2282G>A p.S761N missense 0.00000825●●●●●●
169. 62211480 c.2151G>C p.Q717H missense 0.00000825●●●●●●
170. 62204949 c.1394G>A p.S465N missense 0.00000825●●●●●●
171. 62188256 c.256G>A p.A86T missense 0.00000825●●●●●●
172. 62204967 c.1412A>G p.N471S missense 0.00000825●●●●●●
173. 62207824 c.2011A>G p.R671G missense 0.00000825●●●●●●
174. 62200949 c.974A>G p.Y325C missense 0.00000825●●●●●●
175. 62204963 c.1408C>G p.L470V missense 0.00000825●●●●●●
176. 62188257 c.257C>T p.A86V missense 0.00000825●●●●●●
177. 62211475 c.2146G>A p.A716T missense 0.00000825●●●●●●
178. 62207825 c.2012G>A p.R671K missense 0.00000825●●●●●●
179. 62204931 c.1376C>T p.P459L missense 0.00000825●●●●●●
180. 62188246 c.246T>G p.D82E missense 0.00000825●●●●●●
181. 62200957 c.982A>C p.K328Q missense 0.00000825●●●●●●
182. 62212402 c.2203-7T>C splice site 0.00000825●●●●●●
183. 62187251 c.187A>G p.T63A missense 0.00000825●●●●●●
184. 62207835 c.2022A>T p.K674N missense 0.00000825●●●●●●
185. 62204943 c.1388G>A p.R463Q missense 0.00000825●●●●●●
186. 62207768 c.1955C>T p.T652I missense 0.00000824●●●●●●
187. 62207755 c.1942C>T p.H648Y missense 0.00000824●●●●●●
188. 62207615 c.1802T>A p.V601E missense 0.00000824●●●●●●
189. 62212435 c.2229T>A p.D743E missense 0.00000824●●●●●●
190. 62212412 c.2206A>C p.T736P missense 0.00000824●●●●●●
191. 62194229 c.629G>A p.C210Y missense 0.00000824●●●●●●
192. 62194208 c.608C>T p.T203I missense 0.00000824●●●●●●
193. 62207800 c.1987C>T p.Q663X nonsense 0.00000824●●●●●●
194. 62207536 c.1723C>T p.R575C missense 0.00000824●●●●●●
195. 62203692 c.1114A>G p.T372A missense 0.00000824●●●●●●
196. 62207654 c.1841C>T p.A614V missense 0.00000824●●●●●●
197. 62207771 c.1958G>C p.S653T missense 0.00000824●●●●●●
198. 62207758 c.1945A>G p.K649E missense 0.00000824●●●●●●
199. 62207544 c.1731C>G p.F577L missense 0.00000824●●●●●●
200. 62207634 c.1821A>G p.I607M missense 0.00000824●●●●●●
201. 62187219 c.155C>T p.S52L missense 0.00000824●●●●●●
202. 62213712 c.2390G>A p.S797N missense 0.00000824●●●●●●
203. 62207709 c.1896G>A p.M632I missense 0.00000824●●●●●●
204. 62212428 c.2222C>T p.P741L missense 0.00000824●●●●●●
205. 62203648 c.1070C>G p.T357R missense 0.00000824●●●●●●
206. 62194285 c.685C>T p.H229Y missense 0.00000824●●●●●●
207. 62194213 c.613A>G p.S205G missense 0.00000824●●●●●●
208. 62207735 c.1922C>T p.S641F missense 0.00000824●●●●●●
209. 62203705 c.1127C>T p.T376I missense 0.00000824●●●●●●
210. 62207785 c.1972C>A p.P658T missense 0.00000824●●●●●●
211. 62207759 c.1946A>G p.K649R missense 0.00000824●●●●●●
212. 62207545 c.1732G>A p.D578N missense 0.00000824●●●●●●
213. 62207721 c.1908A>C p.K636N missense 0.00000824●●●●●●
214. 62207657 c.1844C>A p.T615N missense 0.00000824●●●●●●
215. 62187244 c.180G>A p.M60I missense 0.00000824●●●●●●
216. 62212430 c.2224G>A p.D742N missense 0.00000824●●●●●●
217. 62203653 c.1075T>C p.C359R missense 0.00000824●●●●●●
218. 62207762 c.1949A>G p.E650G missense 0.00000824●●●●●●
219. 62203672 c.1094A>G p.E365G missense 0.00000824●●●●●●
220. 62212437 c.2231A>G p.H744R missense 0.00000824●●●●●●
221. 62207668 c.1855G>A p.A619T missense 0.00000824●●●●●●
222. 62207740 c.1927T>G p.S643A missense 0.00000824●●●●●●
223. 62203671 c.1093G>T p.E365X nonsense 0.00000824●●●●●●
224. 62187188 c.124C>T p.H42Y missense 0.00000824●●●●●●
225. 62212410 c.2204G>A p.G735E missense 0.00000824●●●●●●
226. 62188325 c.325A>G p.M109V missense 0.00000824●●●●●●
227. 62194215 c.615T>G p.S205R missense 0.00000824●●●●●●
228. 62207788 c.1975T>A p.Y659N missense 0.00000824●●●●●●
229. 62188328 c.328A>G p.I110V missense 0.00000824●●●●●●
230. 62207552 c.1739T>C p.L580S missense 0.00000824●●●●●●
231. 62207806 c.1993C>T p.R665W missense 0.00000824●●●●●●
232. 62207685 c.1872A>T p.L624F missense 0.00000824●●●●●●
233. 62212460 c.2254T>C p.W752R missense 0.00000824●●●●●●
234. 62207535 c.1722A>T p.L574F missense 0.00000824●●●●●●
235. 62203668 c.1090G>A p.V364I missense 0.00000824●●●●●●

* This highlights the relative frequency of the variant in the ExAC populations - Non-Finnish European, African, East Asian, South Asian, American and Finnish. Higher frequencies are denoted by darker shades of green, variants absent in a population are coloured light gray.

✝ Genomic coordinates refer to the GRCh37 release of the human genome.