CACNA1D
This page contains an overview of the genetic variation in the CACNA1D 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:
CACNA1D gene and transcript details
Gene Name
calcium channel, voltage-dependent, L type, alpha 1D subunit
Gene Links
Ensembl: ENSG00000157388 -
Locus Reference Genomic:
Genomic Location
Chromosome 3 : 53,529,194 - 53,845,433 (forward strand)
View in: Ensembl -
UCSC Genome Browser
| Canonical Seqs | Transcript (6543 bases) | Protein (2181 aa) |
|---|---|---|
 |
ENST00000288139 | ENSP00000288139 |
 |
||
 |
NM_000720.2 | |
 |
Summary of CACNA1D in Cardiomyopathies
CACNA1D variants in ExAC
Details of the protein-altering CACNA1D 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 | 601 | 0.00838 |
| Truncating | 5 | 0.00004 |
| Missense | 506 | 0.00686 |
| Inframe | 8 | 0.00005 |
| Splice Site | 82 | 0.00143 |