Canonical Allele Identifier: CA353237982

Gene: CACNA1D

Linked Data

• dbSNP Id: rs2094905800
• gnomAD v4: 3-53723850-G-A
• COSMIC: COSM1199233
• MyVariant Identifiers: chr3:g.53757877G>A (hg19) ; chr3:g.53723850G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53723850G>A , CM000665.2:g.53723850G>A	GRCh38
NC_000003.11:g.53757877G>A , CM000665.1:g.53757877G>A	GRCh37
NC_000003.10:g.53732917G>A	NCBI36
NG_032999.1:g.233802G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.2011G>A	ENSP00000418014.2:p.Ala671Thr
ENST00000636627.2:c.2011G>A	ENSP00000490889.2:p.Ala671Thr
ENST00000288139.11:c.2011G>A MANE Plus Clinical	ENSP00000288139.3:p.Ala671Thr
ENST00000350061.11:c.1951G>A MANE Select	ENSP00000288133.5:p.Ala651Thr
ENST00000422281.7:c.1951G>A	ENSP00000409174.2:p.Ala651Thr
ENST00000636570.1:c.1951G>A	ENSP00000490183.1:p.Ala651Thr
ENST00000636627.1:c.1251G>A
ENST00000636938.1:c.1951G>A	ENSP00000490039.1:p.Ala651Thr
ENST00000637424.1:c.2023G>A	ENSP00000489769.1:p.Ala675Thr
ENST00000640483.1:c.1984G>A	ENSP00000491921.1:p.Ala662Thr
ENST00000288139.8:c.2011G>A	ENSP00000288139.3:p.Ala671Thr
ENST00000350061.9:c.1951G>A	ENSP00000288133.5:p.Ala651Thr
ENST00000422281.6:c.1951G>A	ENSP00000409174.2:p.Ala651Thr
ENST00000481478.1:c.1030G>A	ENSP00000418014.1:p.Ala344Thr
NM_000720.3:c.2011G>A	NP_000711.1:p.Ala671Thr
NM_001128839.2:c.1951G>A	NP_001122311.1:p.Ala651Thr
NM_001128840.2:c.1951G>A	NP_001122312.1:p.Ala651Thr
XM_005265448.2:c.1951G>A	XP_005265505.1:p.Ala651Thr
XM_011534094.1:c.2122G>A	XP_011532396.1:p.Ala708Thr
XM_011534095.1:c.2011G>A	XP_011532397.1:p.Ala671Thr
XM_011534096.1:c.2062G>A	XP_011532398.1:p.Ala688Thr
XM_011534097.1:c.1585G>A	XP_011532399.1:p.Ala529Thr
XM_011534098.1:c.1585G>A	XP_011532400.1:p.Ala529Thr
XM_011534099.1:c.1210G>A	XP_011532401.1:p.Ala404Thr
XM_011534100.1:c.2062G>A	XP_011532402.1:p.Ala688Thr
XM_005265448.3:c.1951G>A	XP_005265505.1:p.Ala651Thr
XM_011534094.2:c.2122G>A	XP_011532396.1:p.Ala708Thr
XM_011534096.2:c.2062G>A	XP_011532398.1:p.Ala688Thr
XM_011534097.2:c.1585G>A	XP_011532399.1:p.Ala529Thr
XM_011534099.2:c.1210G>A	XP_011532401.1:p.Ala404Thr
XM_011534100.2:c.2062G>A	XP_011532402.1:p.Ala688Thr
XM_017007137.1:c.2122G>A	XP_016862626.1:p.Ala708Thr
XM_017007138.1:c.2122G>A	XP_016862627.1:p.Ala708Thr
XM_017007139.1:c.2122G>A	XP_016862628.1:p.Ala708Thr
XM_017007140.1:c.2062G>A	XP_016862629.1:p.Ala688Thr
XM_017007141.1:c.2062G>A	XP_016862630.1:p.Ala688Thr
XM_017007142.1:c.2122G>A	XP_016862631.1:p.Ala708Thr
XM_017007143.1:c.2122G>A	XP_016862632.1:p.Ala708Thr
XM_017007144.1:c.2122G>A	XP_016862633.1:p.Ala708Thr
XM_017007145.1:c.2122G>A	XP_016862634.1:p.Ala708Thr
NM_001128840.3:c.1951G>A MANE Select	NP_001122312.1:p.Ala651Thr
NM_000720.4:c.2011G>A MANE Plus Clinical	NP_000711.1:p.Ala671Thr
NM_001128839.3:c.1951G>A	NP_001122311.1:p.Ala651Thr