CACNA2D4
This page contains an overview of the genetic variation in the CACNA2D4 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:
CACNA2D4 gene and transcript details
Gene Name
calcium channel, voltage-dependent, alpha 2/delta subunit 4
Gene Links
Ensembl: ENSG00000151062 -
Locus Reference Genomic:
Genomic Location
Chromosome 12 : 1,902,821 - 2,027,639 (reverse strand)
View in: Ensembl -
UCSC Genome Browser
| Canonical Seqs | Transcript (3411 bases) | Protein (1137 aa) |
|---|---|---|
 |
ENST00000382722 | ENSP00000372169 |
 |
||
 |
NM_172364.4 | |
 |
Q7Z3S7 |
Summary of CACNA2D4 in Cardiomyopathies
CACNA2D4 variants in ExAC
Details of the protein-altering CACNA2D4 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 | 570 | 0.00993 |
| Truncating | 51 | 0.00069 |
| Missense | 417 | 0.00748 |
| Inframe | 8 | 0.00010 |
| Splice Site | 94 | 0.00165 |