Canonical Allele Identifier: CA353250042

Gene: CACNA1D

Linked Data

• ClinVar Variation Id: 2543254
• ClinVar RCV Id: RCV003267069
• gnomAD v4: 3-53801152-A-G
• MyVariant Identifiers: chr3:g.53835179A>G (hg19) ; chr3:g.53801152A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53801152A>G , CM000665.2:g.53801152A>G	GRCh38
NC_000003.11:g.53835179A>G , CM000665.1:g.53835179A>G	GRCh37
NC_000003.10:g.53810219A>G	NCBI36
NG_032999.1:g.311104A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.5195A>G	ENSP00000418014.2:p.His1732Arg
ENST00000636633.2:n.2194-60A>G
ENST00000636999.2:n.570A>G
ENST00000288139.11:c.5195A>G MANE Plus Clinical	ENSP00000288139.3:p.His1732Arg
ENST00000350061.11:c.5135A>G MANE Select	ENSP00000288133.5:p.His1712Arg
ENST00000422281.7:c.5090A>G	ENSP00000409174.2:p.His1697Arg
ENST00000636448.1:c.1316-60A>G
ENST00000636570.1:c.5090A>G	ENSP00000490183.1:p.His1697Arg
ENST00000636629.1:n.491A>G
ENST00000636633.1:n.2194-60A>G
ENST00000636999.1:n.562A>G
ENST00000637424.1:c.5162A>G	ENSP00000489769.1:p.His1721Arg
ENST00000288139.8:c.5195A>G	ENSP00000288139.3:p.His1732Arg
ENST00000350061.9:c.5135A>G	ENSP00000288133.5:p.His1712Arg
ENST00000422281.6:c.5090A>G	ENSP00000409174.2:p.His1697Arg
ENST00000481478.1:c.4214A>G	ENSP00000418014.1:p.His1405Arg
NM_000720.3:c.5195A>G	NP_000711.1:p.His1732Arg
NM_001128839.2:c.5090A>G	NP_001122311.1:p.His1697Arg
NM_001128840.2:c.5135A>G	NP_001122312.1:p.His1712Arg
XM_005265448.2:c.5090A>G	XP_005265505.1:p.His1697Arg
XM_011534094.1:c.5390A>G	XP_011532396.1:p.His1797Arg
XM_011534095.1:c.5279A>G	XP_011532397.1:p.His1760Arg
XM_011534096.1:c.5201A>G	XP_011532398.1:p.His1734Arg
XM_011534097.1:c.4853A>G	XP_011532399.1:p.His1618Arg
XM_011534098.1:c.4853A>G	XP_011532400.1:p.His1618Arg
XM_011534099.1:c.4478A>G	XP_011532401.1:p.His1493Arg
XM_011534100.1:c.5285A>G	XP_011532402.1:p.His1762Arg
XM_005265448.3:c.5090A>G	XP_005265505.1:p.His1697Arg
XM_011534094.2:c.5390A>G	XP_011532396.1:p.His1797Arg
XM_011534096.2:c.5201A>G	XP_011532398.1:p.His1734Arg
XM_011534097.2:c.4853A>G	XP_011532399.1:p.His1618Arg
XM_011534099.2:c.4478A>G	XP_011532401.1:p.His1493Arg
XM_011534100.2:c.5285A>G	XP_011532402.1:p.His1762Arg
XM_017007137.1:c.5390A>G	XP_016862626.1:p.His1797Arg
XM_017007138.1:c.5387A>G	XP_016862627.1:p.His1796Arg
XM_017007139.1:c.5390A>G	XP_016862628.1:p.His1797Arg
XM_017007140.1:c.5330A>G	XP_016862629.1:p.His1777Arg
XM_017007141.1:c.5330A>G	XP_016862630.1:p.His1777Arg
XM_017007142.1:c.5306A>G	XP_016862631.1:p.His1769Arg
XM_017007143.1:c.5306A>G	XP_016862632.1:p.His1769Arg
XM_017007144.1:c.5306A>G	XP_016862633.1:p.His1769Arg
XM_017007145.1:c.5261A>G	XP_016862634.1:p.His1754Arg
NM_001128840.3:c.5135A>G MANE Select	NP_001122312.1:p.His1712Arg
NM_000720.4:c.5195A>G MANE Plus Clinical	NP_000711.1:p.His1732Arg
NM_001128839.3:c.5090A>G	NP_001122311.1:p.His1697Arg