Canonical Allele Identifier: CA353250689

Gene: CACNA1D

Linked Data

• dbSNP Id: rs1559712404
• MyVariant Identifiers: chr3:g.53835272A>G (hg19) ; chr3:g.53801245A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53801245A>G , CM000665.2:g.53801245A>G	GRCh38
NC_000003.11:g.53835272A>G , CM000665.1:g.53835272A>G	GRCh37
NC_000003.10:g.53810312A>G	NCBI36
NG_032999.1:g.311197A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.5288A>G	ENSP00000418014.2:p.His1763Arg
ENST00000636633.2:n.2227A>G
ENST00000636999.2:n.663A>G
ENST00000288139.11:c.5288A>G MANE Plus Clinical	ENSP00000288139.3:p.His1763Arg
ENST00000350061.11:c.5228A>G MANE Select	ENSP00000288133.5:p.His1743Arg
ENST00000422281.7:c.5183A>G	ENSP00000409174.2:p.His1728Arg
ENST00000636448.1:c.1349A>G
ENST00000636570.1:c.5183A>G	ENSP00000490183.1:p.His1728Arg
ENST00000636629.1:n.584A>G
ENST00000636633.1:n.2227A>G
ENST00000636999.1:n.655A>G
ENST00000637424.1:c.5255A>G	ENSP00000489769.1:p.His1752Arg
ENST00000288139.8:c.5288A>G	ENSP00000288139.3:p.His1763Arg
ENST00000350061.9:c.5228A>G	ENSP00000288133.5:p.His1743Arg
ENST00000422281.6:c.5183A>G	ENSP00000409174.2:p.His1728Arg
ENST00000481478.1:c.4307A>G	ENSP00000418014.1:p.His1436Arg
NM_000720.3:c.5288A>G	NP_000711.1:p.His1763Arg
NM_001128839.2:c.5183A>G	NP_001122311.1:p.His1728Arg
NM_001128840.2:c.5228A>G	NP_001122312.1:p.His1743Arg
XM_005265448.2:c.5183A>G	XP_005265505.1:p.His1728Arg
XM_011534094.1:c.5483A>G	XP_011532396.1:p.His1828Arg
XM_011534095.1:c.5372A>G	XP_011532397.1:p.His1791Arg
XM_011534096.1:c.5294A>G	XP_011532398.1:p.His1765Arg
XM_011534097.1:c.4946A>G	XP_011532399.1:p.His1649Arg
XM_011534098.1:c.4946A>G	XP_011532400.1:p.His1649Arg
XM_011534099.1:c.4571A>G	XP_011532401.1:p.His1524Arg
XM_011534100.1:c.5378A>G	XP_011532402.1:p.His1793Arg
XM_005265448.3:c.5183A>G	XP_005265505.1:p.His1728Arg
XM_011534094.2:c.5483A>G	XP_011532396.1:p.His1828Arg
XM_011534096.2:c.5294A>G	XP_011532398.1:p.His1765Arg
XM_011534097.2:c.4946A>G	XP_011532399.1:p.His1649Arg
XM_011534099.2:c.4571A>G	XP_011532401.1:p.His1524Arg
XM_011534100.2:c.5378A>G	XP_011532402.1:p.His1793Arg
XM_017007137.1:c.5483A>G	XP_016862626.1:p.His1828Arg
XM_017007138.1:c.5480A>G	XP_016862627.1:p.His1827Arg
XM_017007139.1:c.5483A>G	XP_016862628.1:p.His1828Arg
XM_017007140.1:c.5423A>G	XP_016862629.1:p.His1808Arg
XM_017007141.1:c.5423A>G	XP_016862630.1:p.His1808Arg
XM_017007142.1:c.5399A>G	XP_016862631.1:p.His1800Arg
XM_017007143.1:c.5399A>G	XP_016862632.1:p.His1800Arg
XM_017007144.1:c.5399A>G	XP_016862633.1:p.His1800Arg
XM_017007145.1:c.5354A>G	XP_016862634.1:p.His1785Arg
NM_001128840.3:c.5228A>G MANE Select	NP_001122312.1:p.His1743Arg
NM_000720.4:c.5288A>G MANE Plus Clinical	NP_000711.1:p.His1763Arg
NM_001128839.3:c.5183A>G	NP_001122311.1:p.His1728Arg