Canonical Allele Identifier: CA353250158

Gene: CACNA1D

Linked Data

• gnomAD v4: 3-53801167-C-T
• MyVariant Identifiers: chr3:g.53835194C>T (hg19) ; chr3:g.53801167C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53801167C>T , CM000665.2:g.53801167C>T	GRCh38
NC_000003.11:g.53835194C>T , CM000665.1:g.53835194C>T	GRCh37
NC_000003.10:g.53810234C>T	NCBI36
NG_032999.1:g.311119C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.5210C>T	ENSP00000418014.2:p.Ser1737Leu
ENST00000636633.2:n.2194-45C>T
ENST00000636999.2:n.585C>T
ENST00000288139.11:c.5210C>T MANE Plus Clinical	ENSP00000288139.3:p.Ser1737Leu
ENST00000350061.11:c.5150C>T MANE Select	ENSP00000288133.5:p.Ser1717Leu
ENST00000422281.7:c.5105C>T	ENSP00000409174.2:p.Ser1702Leu
ENST00000636448.1:c.1316-45C>T
ENST00000636570.1:c.5105C>T	ENSP00000490183.1:p.Ser1702Leu
ENST00000636629.1:n.506C>T
ENST00000636633.1:n.2194-45C>T
ENST00000636999.1:n.577C>T
ENST00000637424.1:c.5177C>T	ENSP00000489769.1:p.Ser1726Leu
ENST00000288139.8:c.5210C>T	ENSP00000288139.3:p.Ser1737Leu
ENST00000350061.9:c.5150C>T	ENSP00000288133.5:p.Ser1717Leu
ENST00000422281.6:c.5105C>T	ENSP00000409174.2:p.Ser1702Leu
ENST00000481478.1:c.4229C>T	ENSP00000418014.1:p.Ser1410Leu
NM_000720.3:c.5210C>T	NP_000711.1:p.Ser1737Leu
NM_001128839.2:c.5105C>T	NP_001122311.1:p.Ser1702Leu
NM_001128840.2:c.5150C>T	NP_001122312.1:p.Ser1717Leu
XM_005265448.2:c.5105C>T	XP_005265505.1:p.Ser1702Leu
XM_011534094.1:c.5405C>T	XP_011532396.1:p.Ser1802Leu
XM_011534095.1:c.5294C>T	XP_011532397.1:p.Ser1765Leu
XM_011534096.1:c.5216C>T	XP_011532398.1:p.Ser1739Leu
XM_011534097.1:c.4868C>T	XP_011532399.1:p.Ser1623Leu
XM_011534098.1:c.4868C>T	XP_011532400.1:p.Ser1623Leu
XM_011534099.1:c.4493C>T	XP_011532401.1:p.Ser1498Leu
XM_011534100.1:c.5300C>T	XP_011532402.1:p.Ser1767Leu
XM_005265448.3:c.5105C>T	XP_005265505.1:p.Ser1702Leu
XM_011534094.2:c.5405C>T	XP_011532396.1:p.Ser1802Leu
XM_011534096.2:c.5216C>T	XP_011532398.1:p.Ser1739Leu
XM_011534097.2:c.4868C>T	XP_011532399.1:p.Ser1623Leu
XM_011534099.2:c.4493C>T	XP_011532401.1:p.Ser1498Leu
XM_011534100.2:c.5300C>T	XP_011532402.1:p.Ser1767Leu
XM_017007137.1:c.5405C>T	XP_016862626.1:p.Ser1802Leu
XM_017007138.1:c.5402C>T	XP_016862627.1:p.Ser1801Leu
XM_017007139.1:c.5405C>T	XP_016862628.1:p.Ser1802Leu
XM_017007140.1:c.5345C>T	XP_016862629.1:p.Ser1782Leu
XM_017007141.1:c.5345C>T	XP_016862630.1:p.Ser1782Leu
XM_017007142.1:c.5321C>T	XP_016862631.1:p.Ser1774Leu
XM_017007143.1:c.5321C>T	XP_016862632.1:p.Ser1774Leu
XM_017007144.1:c.5321C>T	XP_016862633.1:p.Ser1774Leu
XM_017007145.1:c.5276C>T	XP_016862634.1:p.Ser1759Leu
NM_001128840.3:c.5150C>T MANE Select	NP_001122312.1:p.Ser1717Leu
NM_000720.4:c.5210C>T MANE Plus Clinical	NP_000711.1:p.Ser1737Leu
NM_001128839.3:c.5105C>T	NP_001122311.1:p.Ser1702Leu