Canonical Allele Identifier: CA2455430

Gene: CACNA1D

Linked Data

• ClinVar Variation Id: 1439396
• ClinVar RCV Id: RCV001974950
• dbSNP Id: rs149416995
• ExAC: 3:53845288 G / A
• gnomAD v2: 3-53845288-G-A
• gnomAD v3: 3-53811261-G-A
• gnomAD v4: 3-53811261-G-A
• MyVariant Identifiers: chr3:g.53845288G>A (hg19) ; chr3:g.53811261G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53811261G>A , CM000665.2:g.53811261G>A	GRCh38
NC_000003.11:g.53845288G>A , CM000665.1:g.53845288G>A	GRCh37
NC_000003.10:g.53820328G>A	NCBI36
NG_032999.1:g.321213G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.6401G>A	ENSP00000418014.2:p.Arg2134Gln
ENST00000636581.2:n.1730G>A
ENST00000636633.2:n.3340G>A
ENST00000636999.2:n.1776G>A
ENST00000288139.11:c.6401G>A MANE Plus Clinical	ENSP00000288139.3:p.Arg2134Gln
ENST00000350061.11:c.6341G>A MANE Select	ENSP00000288133.5:p.Arg2114Gln
ENST00000422281.7:c.6269G>A	ENSP00000409174.2:p.Arg2090Gln
ENST00000636448.1:c.2462G>A
ENST00000636570.1:c.6296G>A	ENSP00000490183.1:p.Arg2099Gln
ENST00000636581.1:n.1730G>A
ENST00000636629.1:n.1713G>A
ENST00000636633.1:n.3340G>A
ENST00000636999.1:n.1768G>A
ENST00000637424.1:c.6368G>A	ENSP00000489769.1:p.Arg2123Gln
ENST00000288139.8:c.6401G>A	ENSP00000288139.3:p.Arg2134Gln
ENST00000350061.9:c.6341G>A	ENSP00000288133.5:p.Arg2114Gln
ENST00000422281.6:c.6269G>A	ENSP00000409174.2:p.Arg2090Gln
ENST00000481478.1:c.5420G>A	ENSP00000418014.1:p.Arg1807Gln
NM_000720.3:c.6401G>A	NP_000711.1:p.Arg2134Gln
NM_001128839.2:c.6269G>A	NP_001122311.1:p.Arg2090Gln
NM_001128840.2:c.6341G>A	NP_001122312.1:p.Arg2114Gln
XM_005265448.2:c.6296G>A	XP_005265505.1:p.Arg2099Gln
XM_011534094.1:c.6596G>A	XP_011532396.1:p.Arg2199Gln
XM_011534095.1:c.6485G>A	XP_011532397.1:p.Arg2162Gln
XM_011534096.1:c.6407G>A	XP_011532398.1:p.Arg2136Gln
XM_011534097.1:c.6059G>A	XP_011532399.1:p.Arg2020Gln
XM_011534098.1:c.6059G>A	XP_011532400.1:p.Arg2020Gln
XM_011534099.1:c.5684G>A	XP_011532401.1:p.Arg1895Gln
XM_011534100.1:c.6491G>A	XP_011532402.1:p.Arg2164Gln
XM_005265448.3:c.6296G>A	XP_005265505.1:p.Arg2099Gln
XM_011534094.2:c.6596G>A	XP_011532396.1:p.Arg2199Gln
XM_011534096.2:c.6407G>A	XP_011532398.1:p.Arg2136Gln
XM_011534097.2:c.6059G>A	XP_011532399.1:p.Arg2020Gln
XM_011534099.2:c.5684G>A	XP_011532401.1:p.Arg1895Gln
XM_011534100.2:c.6491G>A	XP_011532402.1:p.Arg2164Gln
XM_017007137.1:c.6596G>A	XP_016862626.1:p.Arg2199Gln
XM_017007138.1:c.6593G>A	XP_016862627.1:p.Arg2198Gln
XM_017007139.1:c.6569G>A	XP_016862628.1:p.Arg2190Gln
XM_017007140.1:c.6536G>A	XP_016862629.1:p.Arg2179Gln
XM_017007141.1:c.6536G>A	XP_016862630.1:p.Arg2179Gln
XM_017007142.1:c.6512G>A	XP_016862631.1:p.Arg2171Gln
XM_017007143.1:c.6512G>A	XP_016862632.1:p.Arg2171Gln
XM_017007144.1:c.6512G>A	XP_016862633.1:p.Arg2171Gln
XM_017007145.1:c.6467G>A	XP_016862634.1:p.Arg2156Gln
NM_001128840.3:c.6341G>A MANE Select	NP_001122312.1:p.Arg2114Gln
NM_000720.4:c.6401G>A MANE Plus Clinical	NP_000711.1:p.Arg2134Gln
NM_001128839.3:c.6269G>A	NP_001122311.1:p.Arg2090Gln