Canonical Allele Identifier: CA2455087

Gene: CACNA1D

Linked Data

• ClinVar Variation Id: 1654335
• ClinVar RCV Id: RCV002163887
• dbSNP Id: rs752362880
• ExAC: 3:53835225 G / A
• gnomAD v2: 3-53835225-G-A
• gnomAD v3: 3-53801198-G-A
• gnomAD v4: 3-53801198-G-A
• COSMIC: COSM1047313 ; COSM1593928
• MyVariant Identifiers: chr3:g.53835225G>A (hg19) ; chr3:g.53801198G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53801198G>A , CM000665.2:g.53801198G>A	GRCh38
NC_000003.11:g.53835225G>A , CM000665.1:g.53835225G>A	GRCh37
NC_000003.10:g.53810265G>A	NCBI36
NG_032999.1:g.311150G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.5241G>A	ENSP00000418014.2:p.Pro1747=
ENST00000636633.2:n.2194-14G>A
ENST00000636999.2:n.616G>A
ENST00000288139.11:c.5241G>A MANE Plus Clinical	ENSP00000288139.3:p.Pro1747=
ENST00000350061.11:c.5181G>A MANE Select	ENSP00000288133.5:p.Pro1727=
ENST00000422281.7:c.5136G>A	ENSP00000409174.2:p.Pro1712=
ENST00000636448.1:c.1316-14G>A
ENST00000636570.1:c.5136G>A	ENSP00000490183.1:p.Pro1712=
ENST00000636629.1:n.537G>A
ENST00000636633.1:n.2194-14G>A
ENST00000636999.1:n.608G>A
ENST00000637424.1:c.5208G>A	ENSP00000489769.1:p.Pro1736=
ENST00000288139.8:c.5241G>A	ENSP00000288139.3:p.Pro1747=
ENST00000350061.9:c.5181G>A	ENSP00000288133.5:p.Pro1727=
ENST00000422281.6:c.5136G>A	ENSP00000409174.2:p.Pro1712=
ENST00000481478.1:c.4260G>A	ENSP00000418014.1:p.Pro1420=
NM_000720.3:c.5241G>A	NP_000711.1:p.Pro1747=
NM_001128839.2:c.5136G>A	NP_001122311.1:p.Pro1712=
NM_001128840.2:c.5181G>A	NP_001122312.1:p.Pro1727=
XM_005265448.2:c.5136G>A	XP_005265505.1:p.Pro1712=
XM_011534094.1:c.5436G>A	XP_011532396.1:p.Pro1812=
XM_011534095.1:c.5325G>A	XP_011532397.1:p.Pro1775=
XM_011534096.1:c.5247G>A	XP_011532398.1:p.Pro1749=
XM_011534097.1:c.4899G>A	XP_011532399.1:p.Pro1633=
XM_011534098.1:c.4899G>A	XP_011532400.1:p.Pro1633=
XM_011534099.1:c.4524G>A	XP_011532401.1:p.Pro1508=
XM_011534100.1:c.5331G>A	XP_011532402.1:p.Pro1777=
XM_005265448.3:c.5136G>A	XP_005265505.1:p.Pro1712=
XM_011534094.2:c.5436G>A	XP_011532396.1:p.Pro1812=
XM_011534096.2:c.5247G>A	XP_011532398.1:p.Pro1749=
XM_011534097.2:c.4899G>A	XP_011532399.1:p.Pro1633=
XM_011534099.2:c.4524G>A	XP_011532401.1:p.Pro1508=
XM_011534100.2:c.5331G>A	XP_011532402.1:p.Pro1777=
XM_017007137.1:c.5436G>A	XP_016862626.1:p.Pro1812=
XM_017007138.1:c.5433G>A	XP_016862627.1:p.Pro1811=
XM_017007139.1:c.5436G>A	XP_016862628.1:p.Pro1812=
XM_017007140.1:c.5376G>A	XP_016862629.1:p.Pro1792=
XM_017007141.1:c.5376G>A	XP_016862630.1:p.Pro1792=
XM_017007142.1:c.5352G>A	XP_016862631.1:p.Pro1784=
XM_017007143.1:c.5352G>A	XP_016862632.1:p.Pro1784=
XM_017007144.1:c.5352G>A	XP_016862633.1:p.Pro1784=
XM_017007145.1:c.5307G>A	XP_016862634.1:p.Pro1769=
NM_001128840.3:c.5181G>A MANE Select	NP_001122312.1:p.Pro1727=
NM_000720.4:c.5241G>A MANE Plus Clinical	NP_000711.1:p.Pro1747=
NM_001128839.3:c.5136G>A	NP_001122311.1:p.Pro1712=