Canonical Allele Identifier: CA2453852
Gene: CACNA1D HGNC NCBI

Linked Data

ClinVar Variation Id: 402284
dbSNP Id: rs759274321
gnomAD v2: 3-53707750-C-T
gnomAD v3: 3-53673723-C-T
gnomAD v4: 3-53673723-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.53673723C>T , CM000665.2:g.53673723C>T GRCh38
NC_000003.11:g.53707750C>T , CM000665.1:g.53707750C>T GRCh37
NC_000003.10:g.53682790C>T NCBI36
NG_032999.1:g.183675C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000481478.2:c.1220+597C>T ENSP00000418014.2:n.1220+597C>T
ENST00000636627.2:c.1127C>T ENSP00000490889.2:p.Ala376Val
ENST00000288139.11:c.1127C>T MANE Plus Clinical ENSP00000288139.3:p.Ala376Val
ENST00000350061.11:c.1220+597C>T MANE Select ENSP00000288133.5:n.1220+597C>T
ENST00000422281.7:c.1220+597C>T ENSP00000409174.2:n.1220+597C>T
ENST00000498251.2:n.66+597C>T
ENST00000636570.1:c.1127C>T ENSP00000490183.1:p.Ala376Val
ENST00000636627.1:c.367C>T
ENST00000636938.1:c.1127C>T ENSP00000490039.1:p.Ala376Val
ENST00000637424.1:c.1199C>T ENSP00000489769.1:p.Ala400Val
ENST00000640483.1:c.1100C>T ENSP00000491921.1:p.Ala367Val
ENST00000288139.8:c.1127C>T ENSP00000288139.3:p.Ala376Val
ENST00000350061.9:c.1220+597C>T ENSP00000288133.5:n.1220+597C>T
ENST00000422281.6:c.1220+597C>T ENSP00000409174.2:n.1220+597C>T
ENST00000464429.1:n.169C>T
ENST00000481085.5:c.184C>T
ENST00000481478.1:c.239+597C>T ENSP00000418014.1:n.239+597C>T
ENST00000498251.1:n.66+597C>T
NM_000720.3:c.1127C>T NP_000711.1:p.Ala376Val
NM_001128839.2:c.1220+597C>T NP_001122311.1:n.1220+597C>T
NM_001128840.2:c.1220+597C>T NP_001122312.1:n.1220+597C>T
XM_005265448.2:c.1127C>T XP_005265505.1:p.Ala376Val
XM_011534094.1:c.1331+597C>T XP_011532396.1:n.1331+597C>T
XM_011534095.1:c.1127C>T XP_011532397.1:p.Ala376Val
XM_011534096.1:c.1238C>T XP_011532398.1:p.Ala413Val
XM_011534097.1:c.701C>T XP_011532399.1:p.Ala234Val
XM_011534098.1:c.701C>T XP_011532400.1:p.Ala234Val
XM_011534099.1:c.326C>T XP_011532401.1:p.Ala109Val
XM_011534100.1:c.1238C>T XP_011532402.1:p.Ala413Val
XM_005265448.3:c.1127C>T XP_005265505.1:p.Ala376Val
XM_011534094.2:c.1331+597C>T XP_011532396.1:n.1331+597C>T
XM_011534096.2:c.1238C>T XP_011532398.1:p.Ala413Val
XM_011534097.2:c.701C>T XP_011532399.1:p.Ala234Val
XM_011534099.2:c.326C>T XP_011532401.1:p.Ala109Val
XM_011534100.2:c.1238C>T XP_011532402.1:p.Ala413Val
XM_017007137.1:c.1238C>T XP_016862626.1:p.Ala413Val
XM_017007138.1:c.1238C>T XP_016862627.1:p.Ala413Val
XM_017007139.1:c.1238C>T XP_016862628.1:p.Ala413Val
XM_017007140.1:c.1238C>T XP_016862629.1:p.Ala413Val
XM_017007141.1:c.1331+597C>T XP_016862630.1:n.1331+597C>T
XM_017007142.1:c.1238C>T XP_016862631.1:p.Ala413Val
XM_017007143.1:c.1238C>T XP_016862632.1:p.Ala413Val
XM_017007144.1:c.1331+597C>T XP_016862633.1:n.1331+597C>T
XM_017007145.1:c.1238C>T XP_016862634.1:p.Ala413Val
NM_001128840.3:c.1220+597C>T MANE Select NP_001122312.1:n.1220+597C>T
NM_000720.4:c.1127C>T MANE Plus Clinical NP_000711.1:p.Ala376Val
NM_001128839.3:c.1220+597C>T NP_001122311.1:n.1220+597C>T