HIF1A
This page contains an overview of the genetic variation in the HIF1A gene, including its role in inherited cardiac disease. For more details, click on the links below, or for a specific variant, enter the HGVS variant here:
HIF1A gene and transcript details
Gene Name
hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
Gene Links
Ensembl: ENSG00000100644 -
Locus Reference Genomic:
Genomic Location
Chromosome 14 : 62,162,523 - 62,213,803 (forward strand)
View in: Ensembl -
UCSC Genome Browser
| Canonical Seqs | Transcript (2478 bases) | Protein (826 aa) |
|---|---|---|
 |
ENST00000337138 | ENSP00000338018 |
 |
||
 |
NM_001530.3 | |
 |
Q16665 |
Summary of HIF1A in Cardiomyopathies
HIF1A variants in ExAC
Details of the protein-altering HIF1A variants (missense, loss of function truncating, inframe indels and splice site regions) found in the ExAC database are shown below. To view lists of specific variants with links to detailed population frequency data, click on the variant numbers - for all or a particular variant class.
| Total Variants | Combined frequency of rare variants | |
|---|---|---|
| All Variants | 235 | 0.00325 |
| Truncating | 7 | 0.00008 |
| Missense | 205 | 0.00285 |
| Inframe | 2 | 0.00002 |
| Splice Site | 21 | 0.00029 |