Canonical Allele Identifier: CA2454486
Gene: CACNA1D HGNC NCBI

Linked Data

ClinVar Variation Id: 227198
dbSNP Id: rs72556355
gnomAD v2: 3-53781323-C-G
gnomAD v3: 3-53747296-C-G
gnomAD v4: 3-53747296-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.53747296C>G , CM000665.2:g.53747296C>G GRCh38
NC_000003.11:g.53781323C>G , CM000665.1:g.53781323C>G GRCh37
NC_000003.10:g.53756363C>G NCBI36
NG_032999.1:g.257248C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000481478.2:c.3228-6C>G ENSP00000418014.2:n.3228-6C>G
ENST00000636627.2:c.3228-6C>G ENSP00000490889.2:n.3228-6C>G
ENST00000288139.11:c.3228-6C>G MANE Plus Clinical ENSP00000288139.3:n.3228-6C>G
ENST00000350061.11:c.3168-6C>G MANE Select ENSP00000288133.5:n.3168-6C>G
ENST00000422281.7:c.3168-6C>G ENSP00000409174.2:n.3168-6C>G
ENST00000636570.1:c.3168-6C>G ENSP00000490183.1:n.3168-6C>G
ENST00000636627.1:c.2468-6C>G
ENST00000636723.1:c.49-6C>G
ENST00000636938.1:c.3168-6C>G ENSP00000490039.1:n.3168-6C>G
ENST00000637424.1:c.3240-6C>G ENSP00000489769.1:n.3240-6C>G
ENST00000640483.1:c.3201-6C>G ENSP00000491921.1:n.3201-6C>G
ENST00000645528.2:c.356-6C>G
ENST00000288139.8:c.3228-6C>G ENSP00000288139.3:n.3228-6C>G
ENST00000350061.9:c.3168-6C>G ENSP00000288133.5:n.3168-6C>G
ENST00000422281.6:c.3168-6C>G ENSP00000409174.2:n.3168-6C>G
ENST00000481478.1:c.2247-6C>G ENSP00000418014.1:n.2247-6C>G
NM_000720.3:c.3228-6C>G NP_000711.1:n.3228-6C>G
NM_001128839.2:c.3168-6C>G NP_001122311.1:n.3168-6C>G
NM_001128840.2:c.3168-6C>G NP_001122312.1:n.3168-6C>G
XM_005265448.2:c.3168-6C>G XP_005265505.1:n.3168-6C>G
XM_011534094.1:c.3339-6C>G XP_011532396.1:n.3339-6C>G
XM_011534095.1:c.3228-6C>G XP_011532397.1:n.3228-6C>G
XM_011534096.1:c.3279-6C>G XP_011532398.1:n.3279-6C>G
XM_011534097.1:c.2802-6C>G XP_011532399.1:n.2802-6C>G
XM_011534098.1:c.2802-6C>G XP_011532400.1:n.2802-6C>G
XM_011534099.1:c.2427-6C>G XP_011532401.1:n.2427-6C>G
XM_011534100.1:c.3279-6C>G XP_011532402.1:n.3279-6C>G
XM_005265448.3:c.3168-6C>G XP_005265505.1:n.3168-6C>G
XM_011534094.2:c.3339-6C>G XP_011532396.1:n.3339-6C>G
XM_011534096.2:c.3279-6C>G XP_011532398.1:n.3279-6C>G
XM_011534097.2:c.2802-6C>G XP_011532399.1:n.2802-6C>G
XM_011534099.2:c.2427-6C>G XP_011532401.1:n.2427-6C>G
XM_011534100.2:c.3279-6C>G XP_011532402.1:n.3279-6C>G
XM_017007137.1:c.3339-6C>G XP_016862626.1:n.3339-6C>G
XM_017007138.1:c.3336-6C>G XP_016862627.1:n.3336-6C>G
XM_017007139.1:c.3339-6C>G XP_016862628.1:n.3339-6C>G
XM_017007140.1:c.3279-6C>G XP_016862629.1:n.3279-6C>G
XM_017007141.1:c.3279-6C>G XP_016862630.1:n.3279-6C>G
XM_017007142.1:c.3339-6C>G XP_016862631.1:n.3339-6C>G
XM_017007143.1:c.3339-6C>G XP_016862632.1:n.3339-6C>G
XM_017007144.1:c.3339-6C>G XP_016862633.1:n.3339-6C>G
XM_017007145.1:c.3339-6C>G XP_016862634.1:n.3339-6C>G
NM_001128840.3:c.3168-6C>G MANE Select NP_001122312.1:n.3168-6C>G
NM_000720.4:c.3228-6C>G MANE Plus Clinical NP_000711.1:n.3228-6C>G
NM_001128839.3:c.3168-6C>G NP_001122311.1:n.3168-6C>G