Canonical Allele Identifier: CA353251822

Gene: CACNA1D

Linked Data

• dbSNP Id: rs1236770795
• gnomAD v2: 3-53835437-G-A
• gnomAD v4: 3-53801410-G-A
• MyVariant Identifiers: chr3:g.53835437G>A (hg19) ; chr3:g.53801410G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53801410G>A , CM000665.2:g.53801410G>A	GRCh38
NC_000003.11:g.53835437G>A , CM000665.1:g.53835437G>A	GRCh37
NC_000003.10:g.53810477G>A	NCBI36
NG_032999.1:g.311362G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.5453G>A	ENSP00000418014.2:p.Arg1818Lys
ENST00000636633.2:n.2392G>A
ENST00000636999.2:n.828G>A
ENST00000288139.11:c.5453G>A MANE Plus Clinical	ENSP00000288139.3:p.Arg1818Lys
ENST00000350061.11:c.5393G>A MANE Select	ENSP00000288133.5:p.Arg1798Lys
ENST00000422281.7:c.5348G>A	ENSP00000409174.2:p.Arg1783Lys
ENST00000636448.1:c.1514G>A
ENST00000636570.1:c.5348G>A	ENSP00000490183.1:p.Arg1783Lys
ENST00000636629.1:n.749G>A
ENST00000636633.1:n.2392G>A
ENST00000636999.1:n.820G>A
ENST00000637424.1:c.5420G>A	ENSP00000489769.1:p.Arg1807Lys
ENST00000637844.1:n.147G>A
ENST00000288139.8:c.5453G>A	ENSP00000288139.3:p.Arg1818Lys
ENST00000350061.9:c.5393G>A	ENSP00000288133.5:p.Arg1798Lys
ENST00000422281.6:c.5348G>A	ENSP00000409174.2:p.Arg1783Lys
ENST00000481478.1:c.4472G>A	ENSP00000418014.1:p.Arg1491Lys
NM_000720.3:c.5453G>A	NP_000711.1:p.Arg1818Lys
NM_001128839.2:c.5348G>A	NP_001122311.1:p.Arg1783Lys
NM_001128840.2:c.5393G>A	NP_001122312.1:p.Arg1798Lys
XM_005265448.2:c.5348G>A	XP_005265505.1:p.Arg1783Lys
XM_011534094.1:c.5648G>A	XP_011532396.1:p.Arg1883Lys
XM_011534095.1:c.5537G>A	XP_011532397.1:p.Arg1846Lys
XM_011534096.1:c.5459G>A	XP_011532398.1:p.Arg1820Lys
XM_011534097.1:c.5111G>A	XP_011532399.1:p.Arg1704Lys
XM_011534098.1:c.5111G>A	XP_011532400.1:p.Arg1704Lys
XM_011534099.1:c.4736G>A	XP_011532401.1:p.Arg1579Lys
XM_011534100.1:c.5543G>A	XP_011532402.1:p.Arg1848Lys
XM_005265448.3:c.5348G>A	XP_005265505.1:p.Arg1783Lys
XM_011534094.2:c.5648G>A	XP_011532396.1:p.Arg1883Lys
XM_011534096.2:c.5459G>A	XP_011532398.1:p.Arg1820Lys
XM_011534097.2:c.5111G>A	XP_011532399.1:p.Arg1704Lys
XM_011534099.2:c.4736G>A	XP_011532401.1:p.Arg1579Lys
XM_011534100.2:c.5543G>A	XP_011532402.1:p.Arg1848Lys
XM_017007137.1:c.5648G>A	XP_016862626.1:p.Arg1883Lys
XM_017007138.1:c.5645G>A	XP_016862627.1:p.Arg1882Lys
XM_017007139.1:c.5648G>A	XP_016862628.1:p.Arg1883Lys
XM_017007140.1:c.5588G>A	XP_016862629.1:p.Arg1863Lys
XM_017007141.1:c.5588G>A	XP_016862630.1:p.Arg1863Lys
XM_017007142.1:c.5564G>A	XP_016862631.1:p.Arg1855Lys
XM_017007143.1:c.5564G>A	XP_016862632.1:p.Arg1855Lys
XM_017007144.1:c.5564G>A	XP_016862633.1:p.Arg1855Lys
XM_017007145.1:c.5519G>A	XP_016862634.1:p.Arg1840Lys
NM_001128840.3:c.5393G>A MANE Select	NP_001122312.1:p.Arg1798Lys
NM_000720.4:c.5453G>A MANE Plus Clinical	NP_000711.1:p.Arg1818Lys
NM_001128839.3:c.5348G>A	NP_001122311.1:p.Arg1783Lys