Canonical Allele Identifier: CA353251662

Gene: CACNA1D

Linked Data

• ClinVar Variation Id: 1945415
• ClinVar RCV Id: RCV002640160
• dbSNP Id: rs2095534960
• MyVariant Identifiers: chr3:g.53835401A>G (hg19) ; chr3:g.53801374A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53801374A>G , CM000665.2:g.53801374A>G	GRCh38
NC_000003.11:g.53835401A>G , CM000665.1:g.53835401A>G	GRCh37
NC_000003.10:g.53810441A>G	NCBI36
NG_032999.1:g.311326A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.5417A>G	ENSP00000418014.2:p.His1806Arg
ENST00000636633.2:n.2356A>G
ENST00000636999.2:n.792A>G
ENST00000288139.11:c.5417A>G MANE Plus Clinical	ENSP00000288139.3:p.His1806Arg
ENST00000350061.11:c.5357A>G MANE Select	ENSP00000288133.5:p.His1786Arg
ENST00000422281.7:c.5312A>G	ENSP00000409174.2:p.His1771Arg
ENST00000636448.1:c.1478A>G
ENST00000636570.1:c.5312A>G	ENSP00000490183.1:p.His1771Arg
ENST00000636629.1:n.713A>G
ENST00000636633.1:n.2356A>G
ENST00000636999.1:n.784A>G
ENST00000637424.1:c.5384A>G	ENSP00000489769.1:p.His1795Arg
ENST00000637844.1:n.111A>G
ENST00000288139.8:c.5417A>G	ENSP00000288139.3:p.His1806Arg
ENST00000350061.9:c.5357A>G	ENSP00000288133.5:p.His1786Arg
ENST00000422281.6:c.5312A>G	ENSP00000409174.2:p.His1771Arg
ENST00000481478.1:c.4436A>G	ENSP00000418014.1:p.His1479Arg
NM_000720.3:c.5417A>G	NP_000711.1:p.His1806Arg
NM_001128839.2:c.5312A>G	NP_001122311.1:p.His1771Arg
NM_001128840.2:c.5357A>G	NP_001122312.1:p.His1786Arg
XM_005265448.2:c.5312A>G	XP_005265505.1:p.His1771Arg
XM_011534094.1:c.5612A>G	XP_011532396.1:p.His1871Arg
XM_011534095.1:c.5501A>G	XP_011532397.1:p.His1834Arg
XM_011534096.1:c.5423A>G	XP_011532398.1:p.His1808Arg
XM_011534097.1:c.5075A>G	XP_011532399.1:p.His1692Arg
XM_011534098.1:c.5075A>G	XP_011532400.1:p.His1692Arg
XM_011534099.1:c.4700A>G	XP_011532401.1:p.His1567Arg
XM_011534100.1:c.5507A>G	XP_011532402.1:p.His1836Arg
XM_005265448.3:c.5312A>G	XP_005265505.1:p.His1771Arg
XM_011534094.2:c.5612A>G	XP_011532396.1:p.His1871Arg
XM_011534096.2:c.5423A>G	XP_011532398.1:p.His1808Arg
XM_011534097.2:c.5075A>G	XP_011532399.1:p.His1692Arg
XM_011534099.2:c.4700A>G	XP_011532401.1:p.His1567Arg
XM_011534100.2:c.5507A>G	XP_011532402.1:p.His1836Arg
XM_017007137.1:c.5612A>G	XP_016862626.1:p.His1871Arg
XM_017007138.1:c.5609A>G	XP_016862627.1:p.His1870Arg
XM_017007139.1:c.5612A>G	XP_016862628.1:p.His1871Arg
XM_017007140.1:c.5552A>G	XP_016862629.1:p.His1851Arg
XM_017007141.1:c.5552A>G	XP_016862630.1:p.His1851Arg
XM_017007142.1:c.5528A>G	XP_016862631.1:p.His1843Arg
XM_017007143.1:c.5528A>G	XP_016862632.1:p.His1843Arg
XM_017007144.1:c.5528A>G	XP_016862633.1:p.His1843Arg
XM_017007145.1:c.5483A>G	XP_016862634.1:p.His1828Arg
NM_001128840.3:c.5357A>G MANE Select	NP_001122312.1:p.His1786Arg
NM_000720.4:c.5417A>G MANE Plus Clinical	NP_000711.1:p.His1806Arg
NM_001128839.3:c.5312A>G	NP_001122311.1:p.His1771Arg