Canonical Allele Identifier: CA75056314
Gene: CACNA1D HGNC NCBI

Linked Data

dbSNP Id: rs3774426

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.53524975C>G , CM000665.2:g.53524975C>G GRCh38
NC_000003.11:g.53559002C>G , CM000665.1:g.53559002C>G GRCh37
NC_000003.10:g.53534042C>G NCBI36
NG_032999.1:g.34927C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000288139.11:c.483+23255C>G MANE Plus Clinical ENSP00000288139.3:p.=
ENST00000350061.11:c.483+23255C>G MANE Select ENSP00000288133.5:p.=
ENST00000422281.7:n.483+23255C>G ENSP00000409174.2:p.=
ENST00000636480.1:n.491+23255C>G
ENST00000636570.1:n.483+23255C>G ENSP00000490183.1:p.=
ENST00000636938.1:c.483+23255C>G ENSP00000490039.1:p.=
ENST00000637424.1:c.555+23255C>G ENSP00000489769.1:p.=
ENST00000640483.1:n.456+23255C>G ENSP00000491921.1:p.=
ENST00000288139.8:c.483+23255C>G ENSP00000288139.3:p.=
ENST00000350061.9:c.483+23255C>G ENSP00000288133.5:p.=
ENST00000422281.6:n.483+23255C>G ENSP00000409174.2:p.=
NM_000720.3:c.483+23255C>G NP_000711.1:p.=
NM_001128839.2:c.483+23255C>G NP_001122311.1:p.=
NM_001128840.2:c.483+23255C>G NP_001122312.1:p.=
XM_005265448.2:c.483+23255C>G XP_005265505.1:p.=
XM_011534094.1:c.594+23255C>G XP_011532396.1:p.=
XM_011534095.1:c.483+23255C>G XP_011532397.1:p.=
XM_011534096.1:c.594+23255C>G XP_011532398.1:p.=
XM_011534097.1:c.57+23471C>G XP_011532399.1:p.=
XM_011534098.1:c.57+23471C>G XP_011532400.1:p.=
XM_011534100.1:c.594+23255C>G XP_011532402.1:p.=
XM_005265448.3:n.483+23255C>G XP_005265505.1:p.=
XM_011534094.2:c.594+23255C>G XP_011532396.1:p.=
XM_011534096.2:c.594+23255C>G XP_011532398.1:p.=
XM_011534097.2:c.57+23471C>G XP_011532399.1:p.=
XM_011534100.2:c.594+23255C>G XP_011532402.1:p.=
XM_017007137.1:c.594+23255C>G XP_016862626.1:p.=
XM_017007138.1:c.594+23255C>G XP_016862627.1:p.=
XM_017007139.1:c.594+23255C>G XP_016862628.1:p.=
XM_017007140.1:c.594+23255C>G XP_016862629.1:p.=
XM_017007141.1:c.594+23255C>G XP_016862630.1:p.=
XM_017007142.1:c.594+23255C>G XP_016862631.1:p.=
XM_017007143.1:c.594+23255C>G XP_016862632.1:p.=
XM_017007144.1:c.594+23255C>G XP_016862633.1:p.=
XM_017007145.1:c.594+23255C>G XP_016862634.1:p.=
NM_001128840.3:c.483+23255C>G MANE Select NP_001122312.1:p.=
NM_000720.4:c.483+23255C>G MANE Plus Clinical NP_000711.1:p.=
NM_001128839.3:c.483+23255C>G NP_001122311.1:p.=