Canonical Allele Identifier: CA353259899

Gene: CACNA1D

Linked Data

• gnomAD v4: 3-53811391-C-A
• MyVariant Identifiers: chr3:g.53845418C>A (hg19) ; chr3:g.53811391C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53811391C>A , CM000665.2:g.53811391C>A	GRCh38
NC_000003.11:g.53845418C>A , CM000665.1:g.53845418C>A	GRCh37
NC_000003.10:g.53820458C>A	NCBI36
NG_032999.1:g.321343C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.6531C>A	ENSP00000418014.2:p.Cys2177Ter
ENST00000636581.2:n.1860C>A
ENST00000636633.2:n.3470C>A
ENST00000636999.2:n.1906C>A
ENST00000288139.11:c.6531C>A MANE Plus Clinical	ENSP00000288139.3:p.Cys2177Ter
ENST00000350061.11:c.6471C>A MANE Select	ENSP00000288133.5:p.Cys2157Ter
ENST00000422281.7:c.6399C>A	ENSP00000409174.2:p.Cys2133Ter
ENST00000636448.1:c.2592C>A
ENST00000636570.1:c.6426C>A	ENSP00000490183.1:p.Cys2142Ter
ENST00000636581.1:n.1860C>A
ENST00000636633.1:n.3470C>A
ENST00000636999.1:n.1898C>A
ENST00000637424.1:c.6498C>A	ENSP00000489769.1:p.Cys2166Ter
ENST00000288139.8:c.6531C>A	ENSP00000288139.3:p.Cys2177Ter
ENST00000350061.9:c.6471C>A	ENSP00000288133.5:p.Cys2157Ter
ENST00000422281.6:c.6399C>A	ENSP00000409174.2:p.Cys2133Ter
ENST00000481478.1:c.5550C>A	ENSP00000418014.1:p.Cys1850Ter
NM_000720.3:c.6531C>A	NP_000711.1:p.Cys2177Ter
NM_001128839.2:c.6399C>A	NP_001122311.1:p.Cys2133Ter
NM_001128840.2:c.6471C>A	NP_001122312.1:p.Cys2157Ter
XM_005265448.2:c.6426C>A	XP_005265505.1:p.Cys2142Ter
XM_011534094.1:c.6726C>A	XP_011532396.1:p.Cys2242Ter
XM_011534095.1:c.6615C>A	XP_011532397.1:p.Cys2205Ter
XM_011534096.1:c.6537C>A	XP_011532398.1:p.Cys2179Ter
XM_011534097.1:c.6189C>A	XP_011532399.1:p.Cys2063Ter
XM_011534098.1:c.6189C>A	XP_011532400.1:p.Cys2063Ter
XM_011534099.1:c.5814C>A	XP_011532401.1:p.Cys1938Ter
XM_011534100.1:c.6621C>A	XP_011532402.1:p.Cys2207Ter
XM_005265448.3:c.6426C>A	XP_005265505.1:p.Cys2142Ter
XM_011534094.2:c.6726C>A	XP_011532396.1:p.Cys2242Ter
XM_011534096.2:c.6537C>A	XP_011532398.1:p.Cys2179Ter
XM_011534097.2:c.6189C>A	XP_011532399.1:p.Cys2063Ter
XM_011534099.2:c.5814C>A	XP_011532401.1:p.Cys1938Ter
XM_011534100.2:c.6621C>A	XP_011532402.1:p.Cys2207Ter
XM_017007137.1:c.6726C>A	XP_016862626.1:p.Cys2242Ter
XM_017007138.1:c.6723C>A	XP_016862627.1:p.Cys2241Ter
XM_017007139.1:c.6699C>A	XP_016862628.1:p.Cys2233Ter
XM_017007140.1:c.6666C>A	XP_016862629.1:p.Cys2222Ter
XM_017007141.1:c.6666C>A	XP_016862630.1:p.Cys2222Ter
XM_017007142.1:c.6642C>A	XP_016862631.1:p.Cys2214Ter
XM_017007143.1:c.6642C>A	XP_016862632.1:p.Cys2214Ter
XM_017007144.1:c.6642C>A	XP_016862633.1:p.Cys2214Ter
XM_017007145.1:c.6597C>A	XP_016862634.1:p.Cys2199Ter
NM_001128840.3:c.6471C>A MANE Select	NP_001122312.1:p.Cys2157Ter
NM_000720.4:c.6531C>A MANE Plus Clinical	NP_000711.1:p.Cys2177Ter
NM_001128839.3:c.6399C>A	NP_001122311.1:p.Cys2133Ter