COSMIC:
COSN18891216 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.93920644 (EAS)
Genomes Max Group AF
0.93920644 (EAS)
Exomes Max Group AF
0.38556286 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.53813035G>A , CM000665.2:g.53813035G>A | GRCh38 |
| NC_000003.11:g.53847062G>A , CM000665.1:g.53847062G>A | GRCh37 |
| NC_000003.10:g.53822102G>A | NCBI36 |
| NG_032999.1:g.322987G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636581.2:n.3504G>A (CACNA1D) | ||
| ENST00000636633.2:n.5114G>A (CACNA1D) | ||
| ENST00000636999.2:n.3550G>A (CACNA1D) | ||
| ENST00000288139.11:c.*1629G>A (CACNA1D) MANE Plus Clinical | ENSP00000288139.3:n.*1629G>A | |
| ENST00000315251.11:c.*4742C>T (CHDH) MANE Select | ENSP00000319851.5:n.*4742C>T | |
| ENST00000350061.11:c.*1629G>A (CACNA1D) MANE Select | ENSP00000288133.5:n.*1629G>A | |
| ENST00000636999.1:n.3542G>A (CACNA1D) | ||
| ENST00000288139.8:c.*1629G>A (CACNA1D) | ENSP00000288139.3:n.*1629G>A | |
| ENST00000315251.10:c.*4742C>T (CHDH) | ENSP00000319851.5:n.*4742C>T | |
| XM_005265448.2:c.*1629G>A (CACNA1D) | XP_005265505.1:n.*1629G>A | |
| XM_011534094.1:c.*1629G>A (CACNA1D) | XP_011532396.1:n.*1629G>A | |
| XM_011534095.1:c.*1629G>A (CACNA1D) | XP_011532397.1:n.*1629G>A | |
| XM_011534096.1:c.*1629G>A (CACNA1D) | XP_011532398.1:n.*1629G>A | |
| XM_011534097.1:c.*1629G>A (CACNA1D) | XP_011532399.1:n.*1629G>A | |
| XM_011534098.1:c.*1629G>A (CACNA1D) | XP_011532400.1:n.*1629G>A | |
| XM_011534099.1:c.*1629G>A (CACNA1D) | XP_011532401.1:n.*1629G>A | |
| XM_011534100.1:c.*1629G>A (CACNA1D) | XP_011532402.1:n.*1629G>A | |
| XM_011534094.2:c.*1629G>A (CACNA1D) | XP_011532396.1:n.*1629G>A | |
| XM_011534097.2:c.*1629G>A (CACNA1D) | XP_011532399.1:n.*1629G>A | |
| XM_011534099.2:c.*1629G>A (CACNA1D) | XP_011532401.1:n.*1629G>A | |
| XM_011534100.2:c.*1629G>A (CACNA1D) | XP_011532402.1:n.*1629G>A | |
| XM_017007137.1:c.*1629G>A (CACNA1D) | XP_016862626.1:n.*1629G>A | |
| XM_017007138.1:c.*1629G>A (CACNA1D) | XP_016862627.1:n.*1629G>A | |
| XM_017007139.1:c.*1629G>A (CACNA1D) | XP_016862628.1:n.*1629G>A | |
| XM_017007140.1:c.*1629G>A (CACNA1D) | XP_016862629.1:n.*1629G>A | |
| XM_017007141.1:c.*1629G>A (CACNA1D) | XP_016862630.1:n.*1629G>A | |
| XM_017007142.1:c.*1629G>A (CACNA1D) | XP_016862631.1:n.*1629G>A | |
| XM_017007143.1:c.*1629G>A (CACNA1D) | XP_016862632.1:n.*1629G>A | |
| XM_017007145.1:c.*1629G>A (CACNA1D) | XP_016862634.1:n.*1629G>A | |
| XR_002959545.1:n.4371C>T (CHDH) | ||
| NM_001128840.3:c.*1629G>A (CACNA1D) MANE Select | NP_001122312.1:n.*1629G>A | |
| NM_018397.5:c.*4742C>T (CHDH) MANE Select | NP_060867.2:n.*4742C>T | |
| NM_000720.4:c.*1629G>A (CACNA1D) MANE Plus Clinical | NP_000711.1:n.*1629G>A | |
| NM_001128839.3:c.*1629G>A (CACNA1D) | NP_001122311.1:n.*1629G>A |