Canonical Allele Identifier: CA232184

Gene: CACNA1D

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53673113G>C , CM000665.2:g.53673113G>C	GRCh38
NC_000003.11:g.53707140G>C , CM000665.1:g.53707140G>C	GRCh37
NC_000003.10:g.53682180G>C	NCBI36
NG_032999.1:g.183065G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.1207G>C	ENSP00000418014.2:p.Gly403Arg
ENST00000636627.2:c.1117-600G>C	ENSP00000490889.2:n.1117-600G>C
ENST00000288139.11:c.1117-600G>C MANE Plus Clinical	ENSP00000288139.3:n.1117-600G>C
ENST00000350061.11:c.1207G>C MANE Select	ENSP00000288133.5:p.Gly403Arg
ENST00000422281.7:c.1207G>C	ENSP00000409174.2:p.Gly403Arg
ENST00000498251.2:n.53G>C
ENST00000636570.1:c.1117-600G>C	ENSP00000490183.1:n.1117-600G>C
ENST00000636627.1:c.357-600G>C
ENST00000636938.1:c.1117-600G>C	ENSP00000490039.1:n.1117-600G>C
ENST00000637424.1:c.1189-600G>C	ENSP00000489769.1:n.1189-600G>C
ENST00000640483.1:c.1090-600G>C	ENSP00000491921.1:n.1090-600G>C
ENST00000288139.8:c.1117-600G>C	ENSP00000288139.3:n.1117-600G>C
ENST00000350061.9:c.1207G>C	ENSP00000288133.5:p.Gly403Arg
ENST00000422281.6:c.1207G>C	ENSP00000409174.2:p.Gly403Arg
ENST00000464429.1:n.159-600G>C
ENST00000481085.5:c.174-600G>C
ENST00000481478.1:c.226G>C	ENSP00000418014.1:p.Gly76Arg
ENST00000498251.1:n.53G>C
NM_000720.3:c.1117-600G>C	NP_000711.1:n.1117-600G>C
NM_001128839.2:c.1207G>C	NP_001122311.1:p.Gly403Arg
NM_001128840.2:c.1207G>C	NP_001122312.1:p.Gly403Arg
XM_005265448.2:c.1117-600G>C	XP_005265505.1:n.1117-600G>C
XM_011534094.1:c.1318G>C	XP_011532396.1:p.Gly440Arg
XM_011534095.1:c.1117-600G>C	XP_011532397.1:n.1117-600G>C
XM_011534096.1:c.1228-600G>C	XP_011532398.1:n.1228-600G>C
XM_011534097.1:c.691-600G>C	XP_011532399.1:n.691-600G>C
XM_011534098.1:c.691-600G>C	XP_011532400.1:n.691-600G>C
XM_011534099.1:c.316-600G>C	XP_011532401.1:n.316-600G>C
XM_011534100.1:c.1228-600G>C	XP_011532402.1:n.1228-600G>C
XM_005265448.3:c.1117-600G>C	XP_005265505.1:n.1117-600G>C
XM_011534094.2:c.1318G>C	XP_011532396.1:p.Gly440Arg
XM_011534096.2:c.1228-600G>C	XP_011532398.1:n.1228-600G>C
XM_011534097.2:c.691-600G>C	XP_011532399.1:n.691-600G>C
XM_011534099.2:c.316-600G>C	XP_011532401.1:n.316-600G>C
XM_011534100.2:c.1228-600G>C	XP_011532402.1:n.1228-600G>C
XM_017007137.1:c.1228-600G>C	XP_016862626.1:n.1228-600G>C
XM_017007138.1:c.1228-600G>C	XP_016862627.1:n.1228-600G>C
XM_017007139.1:c.1228-600G>C	XP_016862628.1:n.1228-600G>C
XM_017007140.1:c.1228-600G>C	XP_016862629.1:n.1228-600G>C
XM_017007141.1:c.1318G>C	XP_016862630.1:p.Gly440Arg
XM_017007142.1:c.1228-600G>C	XP_016862631.1:n.1228-600G>C
XM_017007143.1:c.1228-600G>C	XP_016862632.1:n.1228-600G>C
XM_017007144.1:c.1318G>C	XP_016862633.1:p.Gly440Arg
XM_017007145.1:c.1228-600G>C	XP_016862634.1:n.1228-600G>C
NM_001128840.3:c.1207G>C MANE Select	NP_001122312.1:p.Gly403Arg
NM_000720.4:c.1117-600G>C MANE Plus Clinical	NP_000711.1:n.1117-600G>C
NM_001128839.3:c.1207G>C	NP_001122311.1:p.Gly403Arg