Canonical Allele Identifier: CA353251700

Gene: CACNA1D

Linked Data

• gnomAD v4: 3-53801384-C-A
• MyVariant Identifiers: chr3:g.53835411C>A (hg19) ; chr3:g.53801384C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53801384C>A , CM000665.2:g.53801384C>A	GRCh38
NC_000003.11:g.53835411C>A , CM000665.1:g.53835411C>A	GRCh37
NC_000003.10:g.53810451C>A	NCBI36
NG_032999.1:g.311336C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.5427C>A	ENSP00000418014.2:p.His1809Gln
ENST00000636633.2:n.2366C>A
ENST00000636999.2:n.802C>A
ENST00000288139.11:c.5427C>A MANE Plus Clinical	ENSP00000288139.3:p.His1809Gln
ENST00000350061.11:c.5367C>A MANE Select	ENSP00000288133.5:p.His1789Gln
ENST00000422281.7:c.5322C>A	ENSP00000409174.2:p.His1774Gln
ENST00000636448.1:c.1488C>A
ENST00000636570.1:c.5322C>A	ENSP00000490183.1:p.His1774Gln
ENST00000636629.1:n.723C>A
ENST00000636633.1:n.2366C>A
ENST00000636999.1:n.794C>A
ENST00000637424.1:c.5394C>A	ENSP00000489769.1:p.His1798Gln
ENST00000637844.1:n.121C>A
ENST00000288139.8:c.5427C>A	ENSP00000288139.3:p.His1809Gln
ENST00000350061.9:c.5367C>A	ENSP00000288133.5:p.His1789Gln
ENST00000422281.6:c.5322C>A	ENSP00000409174.2:p.His1774Gln
ENST00000481478.1:c.4446C>A	ENSP00000418014.1:p.His1482Gln
NM_000720.3:c.5427C>A	NP_000711.1:p.His1809Gln
NM_001128839.2:c.5322C>A	NP_001122311.1:p.His1774Gln
NM_001128840.2:c.5367C>A	NP_001122312.1:p.His1789Gln
XM_005265448.2:c.5322C>A	XP_005265505.1:p.His1774Gln
XM_011534094.1:c.5622C>A	XP_011532396.1:p.His1874Gln
XM_011534095.1:c.5511C>A	XP_011532397.1:p.His1837Gln
XM_011534096.1:c.5433C>A	XP_011532398.1:p.His1811Gln
XM_011534097.1:c.5085C>A	XP_011532399.1:p.His1695Gln
XM_011534098.1:c.5085C>A	XP_011532400.1:p.His1695Gln
XM_011534099.1:c.4710C>A	XP_011532401.1:p.His1570Gln
XM_011534100.1:c.5517C>A	XP_011532402.1:p.His1839Gln
XM_005265448.3:c.5322C>A	XP_005265505.1:p.His1774Gln
XM_011534094.2:c.5622C>A	XP_011532396.1:p.His1874Gln
XM_011534096.2:c.5433C>A	XP_011532398.1:p.His1811Gln
XM_011534097.2:c.5085C>A	XP_011532399.1:p.His1695Gln
XM_011534099.2:c.4710C>A	XP_011532401.1:p.His1570Gln
XM_011534100.2:c.5517C>A	XP_011532402.1:p.His1839Gln
XM_017007137.1:c.5622C>A	XP_016862626.1:p.His1874Gln
XM_017007138.1:c.5619C>A	XP_016862627.1:p.His1873Gln
XM_017007139.1:c.5622C>A	XP_016862628.1:p.His1874Gln
XM_017007140.1:c.5562C>A	XP_016862629.1:p.His1854Gln
XM_017007141.1:c.5562C>A	XP_016862630.1:p.His1854Gln
XM_017007142.1:c.5538C>A	XP_016862631.1:p.His1846Gln
XM_017007143.1:c.5538C>A	XP_016862632.1:p.His1846Gln
XM_017007144.1:c.5538C>A	XP_016862633.1:p.His1846Gln
XM_017007145.1:c.5493C>A	XP_016862634.1:p.His1831Gln
NM_001128840.3:c.5367C>A MANE Select	NP_001122312.1:p.His1789Gln
NM_000720.4:c.5427C>A MANE Plus Clinical	NP_000711.1:p.His1809Gln
NM_001128839.3:c.5322C>A	NP_001122311.1:p.His1774Gln