Canonical Allele Identifier: CA353250654

Gene: CACNA1D

Linked Data

• MyVariant Identifiers: chr3:g.53835265C>T (hg19) ; chr3:g.53801238C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53801238C>T , CM000665.2:g.53801238C>T	GRCh38
NC_000003.11:g.53835265C>T , CM000665.1:g.53835265C>T	GRCh37
NC_000003.10:g.53810305C>T	NCBI36
NG_032999.1:g.311190C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.5281C>T	ENSP00000418014.2:p.His1761Tyr
ENST00000636633.2:n.2220C>T
ENST00000636999.2:n.656C>T
ENST00000288139.11:c.5281C>T MANE Plus Clinical	ENSP00000288139.3:p.His1761Tyr
ENST00000350061.11:c.5221C>T MANE Select	ENSP00000288133.5:p.His1741Tyr
ENST00000422281.7:c.5176C>T	ENSP00000409174.2:p.His1726Tyr
ENST00000636448.1:c.1342C>T
ENST00000636570.1:c.5176C>T	ENSP00000490183.1:p.His1726Tyr
ENST00000636629.1:n.577C>T
ENST00000636633.1:n.2220C>T
ENST00000636999.1:n.648C>T
ENST00000637424.1:c.5248C>T	ENSP00000489769.1:p.His1750Tyr
ENST00000288139.8:c.5281C>T	ENSP00000288139.3:p.His1761Tyr
ENST00000350061.9:c.5221C>T	ENSP00000288133.5:p.His1741Tyr
ENST00000422281.6:c.5176C>T	ENSP00000409174.2:p.His1726Tyr
ENST00000481478.1:c.4300C>T	ENSP00000418014.1:p.His1434Tyr
NM_000720.3:c.5281C>T	NP_000711.1:p.His1761Tyr
NM_001128839.2:c.5176C>T	NP_001122311.1:p.His1726Tyr
NM_001128840.2:c.5221C>T	NP_001122312.1:p.His1741Tyr
XM_005265448.2:c.5176C>T	XP_005265505.1:p.His1726Tyr
XM_011534094.1:c.5476C>T	XP_011532396.1:p.His1826Tyr
XM_011534095.1:c.5365C>T	XP_011532397.1:p.His1789Tyr
XM_011534096.1:c.5287C>T	XP_011532398.1:p.His1763Tyr
XM_011534097.1:c.4939C>T	XP_011532399.1:p.His1647Tyr
XM_011534098.1:c.4939C>T	XP_011532400.1:p.His1647Tyr
XM_011534099.1:c.4564C>T	XP_011532401.1:p.His1522Tyr
XM_011534100.1:c.5371C>T	XP_011532402.1:p.His1791Tyr
XM_005265448.3:c.5176C>T	XP_005265505.1:p.His1726Tyr
XM_011534094.2:c.5476C>T	XP_011532396.1:p.His1826Tyr
XM_011534096.2:c.5287C>T	XP_011532398.1:p.His1763Tyr
XM_011534097.2:c.4939C>T	XP_011532399.1:p.His1647Tyr
XM_011534099.2:c.4564C>T	XP_011532401.1:p.His1522Tyr
XM_011534100.2:c.5371C>T	XP_011532402.1:p.His1791Tyr
XM_017007137.1:c.5476C>T	XP_016862626.1:p.His1826Tyr
XM_017007138.1:c.5473C>T	XP_016862627.1:p.His1825Tyr
XM_017007139.1:c.5476C>T	XP_016862628.1:p.His1826Tyr
XM_017007140.1:c.5416C>T	XP_016862629.1:p.His1806Tyr
XM_017007141.1:c.5416C>T	XP_016862630.1:p.His1806Tyr
XM_017007142.1:c.5392C>T	XP_016862631.1:p.His1798Tyr
XM_017007143.1:c.5392C>T	XP_016862632.1:p.His1798Tyr
XM_017007144.1:c.5392C>T	XP_016862633.1:p.His1798Tyr
XM_017007145.1:c.5347C>T	XP_016862634.1:p.His1783Tyr
NM_001128840.3:c.5221C>T MANE Select	NP_001122312.1:p.His1741Tyr
NM_000720.4:c.5281C>T MANE Plus Clinical	NP_000711.1:p.His1761Tyr
NM_001128839.3:c.5176C>T	NP_001122311.1:p.His1726Tyr