Canonical Allele Identifier: CA2666142721

Gene: CACNA1D

Linked Data

• gnomAD v4: 3-53811449-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53811449C>A , CM000665.2:g.53811449C>A	GRCh38
NC_000003.11:g.53845476C>A , CM000665.1:g.53845476C>A	GRCh37
NC_000003.10:g.53820516C>A	NCBI36
NG_032999.1:g.321401C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.*43C>A	ENSP00000418014.2:n.*43C>A
ENST00000636581.2:n.1918C>A
ENST00000636633.2:n.3528C>A
ENST00000636999.2:n.1964C>A
ENST00000288139.11:c.*43C>A MANE Plus Clinical	ENSP00000288139.3:n.*43C>A
ENST00000350061.11:c.*43C>A MANE Select	ENSP00000288133.5:n.*43C>A
ENST00000422281.7:c.6457C>A	ENSP00000409174.2:n.6457C>A
ENST00000636448.1:c.2650C>A
ENST00000636581.1:n.1918C>A
ENST00000636633.1:n.3528C>A
ENST00000636999.1:n.1956C>A
ENST00000288139.8:c.*43C>A	ENSP00000288139.3:n.*43C>A
ENST00000350061.9:c.*43C>A	ENSP00000288133.5:n.*43C>A
ENST00000481478.1:c.5608C>A	ENSP00000418014.1:n.5608C>A
NM_000720.3:c.*43C>A	NP_000711.1:n.*43C>A
NM_001128839.2:c.*43C>A	NP_001122311.1:n.*43C>A
NM_001128840.2:c.*43C>A	NP_001122312.1:n.*43C>A
XM_005265448.2:c.*43C>A	XP_005265505.1:n.*43C>A
XM_011534094.1:c.*43C>A	XP_011532396.1:n.*43C>A
XM_011534095.1:c.*43C>A	XP_011532397.1:n.*43C>A
XM_011534096.1:c.*43C>A	XP_011532398.1:n.*43C>A
XM_011534097.1:c.*43C>A	XP_011532399.1:n.*43C>A
XM_011534098.1:c.*43C>A	XP_011532400.1:n.*43C>A
XM_011534099.1:c.*43C>A	XP_011532401.1:n.*43C>A
XM_011534100.1:c.*43C>A	XP_011532402.1:n.*43C>A
XM_011534094.2:c.*43C>A	XP_011532396.1:n.*43C>A
XM_011534097.2:c.*43C>A	XP_011532399.1:n.*43C>A
XM_011534099.2:c.*43C>A	XP_011532401.1:n.*43C>A
XM_011534100.2:c.*43C>A	XP_011532402.1:n.*43C>A
XM_017007137.1:c.*43C>A	XP_016862626.1:n.*43C>A
XM_017007138.1:c.*43C>A	XP_016862627.1:n.*43C>A
XM_017007139.1:c.*43C>A	XP_016862628.1:n.*43C>A
XM_017007140.1:c.*43C>A	XP_016862629.1:n.*43C>A
XM_017007141.1:c.*43C>A	XP_016862630.1:n.*43C>A
XM_017007142.1:c.*43C>A	XP_016862631.1:n.*43C>A
XM_017007143.1:c.*43C>A	XP_016862632.1:n.*43C>A
XM_017007144.1:c.*43C>A	XP_016862633.1:n.*43C>A
XM_017007145.1:c.*43C>A	XP_016862634.1:n.*43C>A
NM_001128840.3:c.*43C>A MANE Select	NP_001122312.1:n.*43C>A
NM_000720.4:c.*43C>A MANE Plus Clinical	NP_000711.1:n.*43C>A
NM_001128839.3:c.*43C>A	NP_001122311.1:n.*43C>A