Canonical Allele Identifier: CA353250641

Gene: CACNA1D

Linked Data

• ClinVar Variation Id: 1483527
• ClinVar RCV Id: RCV002025456
• dbSNP Id: rs2095534291
• gnomAD v3: 3-53801235-C-T
• gnomAD v4: 3-53801235-C-T
• MyVariant Identifiers: chr3:g.53835262C>T (hg19) ; chr3:g.53801235C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53801235C>T , CM000665.2:g.53801235C>T	GRCh38
NC_000003.11:g.53835262C>T , CM000665.1:g.53835262C>T	GRCh37
NC_000003.10:g.53810302C>T	NCBI36
NG_032999.1:g.311187C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.5278C>T	ENSP00000418014.2:p.His1760Tyr
ENST00000636633.2:n.2217C>T
ENST00000636999.2:n.653C>T
ENST00000288139.11:c.5278C>T MANE Plus Clinical	ENSP00000288139.3:p.His1760Tyr
ENST00000350061.11:c.5218C>T MANE Select	ENSP00000288133.5:p.His1740Tyr
ENST00000422281.7:c.5173C>T	ENSP00000409174.2:p.His1725Tyr
ENST00000636448.1:c.1339C>T
ENST00000636570.1:c.5173C>T	ENSP00000490183.1:p.His1725Tyr
ENST00000636629.1:n.574C>T
ENST00000636633.1:n.2217C>T
ENST00000636999.1:n.645C>T
ENST00000637424.1:c.5245C>T	ENSP00000489769.1:p.His1749Tyr
ENST00000288139.8:c.5278C>T	ENSP00000288139.3:p.His1760Tyr
ENST00000350061.9:c.5218C>T	ENSP00000288133.5:p.His1740Tyr
ENST00000422281.6:c.5173C>T	ENSP00000409174.2:p.His1725Tyr
ENST00000481478.1:c.4297C>T	ENSP00000418014.1:p.His1433Tyr
NM_000720.3:c.5278C>T	NP_000711.1:p.His1760Tyr
NM_001128839.2:c.5173C>T	NP_001122311.1:p.His1725Tyr
NM_001128840.2:c.5218C>T	NP_001122312.1:p.His1740Tyr
XM_005265448.2:c.5173C>T	XP_005265505.1:p.His1725Tyr
XM_011534094.1:c.5473C>T	XP_011532396.1:p.His1825Tyr
XM_011534095.1:c.5362C>T	XP_011532397.1:p.His1788Tyr
XM_011534096.1:c.5284C>T	XP_011532398.1:p.His1762Tyr
XM_011534097.1:c.4936C>T	XP_011532399.1:p.His1646Tyr
XM_011534098.1:c.4936C>T	XP_011532400.1:p.His1646Tyr
XM_011534099.1:c.4561C>T	XP_011532401.1:p.His1521Tyr
XM_011534100.1:c.5368C>T	XP_011532402.1:p.His1790Tyr
XM_005265448.3:c.5173C>T	XP_005265505.1:p.His1725Tyr
XM_011534094.2:c.5473C>T	XP_011532396.1:p.His1825Tyr
XM_011534096.2:c.5284C>T	XP_011532398.1:p.His1762Tyr
XM_011534097.2:c.4936C>T	XP_011532399.1:p.His1646Tyr
XM_011534099.2:c.4561C>T	XP_011532401.1:p.His1521Tyr
XM_011534100.2:c.5368C>T	XP_011532402.1:p.His1790Tyr
XM_017007137.1:c.5473C>T	XP_016862626.1:p.His1825Tyr
XM_017007138.1:c.5470C>T	XP_016862627.1:p.His1824Tyr
XM_017007139.1:c.5473C>T	XP_016862628.1:p.His1825Tyr
XM_017007140.1:c.5413C>T	XP_016862629.1:p.His1805Tyr
XM_017007141.1:c.5413C>T	XP_016862630.1:p.His1805Tyr
XM_017007142.1:c.5389C>T	XP_016862631.1:p.His1797Tyr
XM_017007143.1:c.5389C>T	XP_016862632.1:p.His1797Tyr
XM_017007144.1:c.5389C>T	XP_016862633.1:p.His1797Tyr
XM_017007145.1:c.5344C>T	XP_016862634.1:p.His1782Tyr
NM_001128840.3:c.5218C>T MANE Select	NP_001122312.1:p.His1740Tyr
NM_000720.4:c.5278C>T MANE Plus Clinical	NP_000711.1:p.His1760Tyr
NM_001128839.3:c.5173C>T	NP_001122311.1:p.His1725Tyr