Canonical Allele Identifier: CA353250561

Gene: CACNA1D

Linked Data

• dbSNP Id: rs1461261149
• gnomAD v2: 3-53835248-C-T
• gnomAD v3: 3-53801221-C-T
• gnomAD v4: 3-53801221-C-T
• COSMIC: COSM3596365 ; COSM3596366
• MyVariant Identifiers: chr3:g.53835248C>T (hg19) ; chr3:g.53801221C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53801221C>T , CM000665.2:g.53801221C>T	GRCh38
NC_000003.11:g.53835248C>T , CM000665.1:g.53835248C>T	GRCh37
NC_000003.10:g.53810288C>T	NCBI36
NG_032999.1:g.311173C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.5264C>T	ENSP00000418014.2:p.Ser1755Leu
ENST00000636633.2:n.2203C>T
ENST00000636999.2:n.639C>T
ENST00000288139.11:c.5264C>T MANE Plus Clinical	ENSP00000288139.3:p.Ser1755Leu
ENST00000350061.11:c.5204C>T MANE Select	ENSP00000288133.5:p.Ser1735Leu
ENST00000422281.7:c.5159C>T	ENSP00000409174.2:p.Ser1720Leu
ENST00000636448.1:c.1325C>T
ENST00000636570.1:c.5159C>T	ENSP00000490183.1:p.Ser1720Leu
ENST00000636629.1:n.560C>T
ENST00000636633.1:n.2203C>T
ENST00000636999.1:n.631C>T
ENST00000637424.1:c.5231C>T	ENSP00000489769.1:p.Ser1744Leu
ENST00000288139.8:c.5264C>T	ENSP00000288139.3:p.Ser1755Leu
ENST00000350061.9:c.5204C>T	ENSP00000288133.5:p.Ser1735Leu
ENST00000422281.6:c.5159C>T	ENSP00000409174.2:p.Ser1720Leu
ENST00000481478.1:c.4283C>T	ENSP00000418014.1:p.Ser1428Leu
NM_000720.3:c.5264C>T	NP_000711.1:p.Ser1755Leu
NM_001128839.2:c.5159C>T	NP_001122311.1:p.Ser1720Leu
NM_001128840.2:c.5204C>T	NP_001122312.1:p.Ser1735Leu
XM_005265448.2:c.5159C>T	XP_005265505.1:p.Ser1720Leu
XM_011534094.1:c.5459C>T	XP_011532396.1:p.Ser1820Leu
XM_011534095.1:c.5348C>T	XP_011532397.1:p.Ser1783Leu
XM_011534096.1:c.5270C>T	XP_011532398.1:p.Ser1757Leu
XM_011534097.1:c.4922C>T	XP_011532399.1:p.Ser1641Leu
XM_011534098.1:c.4922C>T	XP_011532400.1:p.Ser1641Leu
XM_011534099.1:c.4547C>T	XP_011532401.1:p.Ser1516Leu
XM_011534100.1:c.5354C>T	XP_011532402.1:p.Ser1785Leu
XM_005265448.3:c.5159C>T	XP_005265505.1:p.Ser1720Leu
XM_011534094.2:c.5459C>T	XP_011532396.1:p.Ser1820Leu
XM_011534096.2:c.5270C>T	XP_011532398.1:p.Ser1757Leu
XM_011534097.2:c.4922C>T	XP_011532399.1:p.Ser1641Leu
XM_011534099.2:c.4547C>T	XP_011532401.1:p.Ser1516Leu
XM_011534100.2:c.5354C>T	XP_011532402.1:p.Ser1785Leu
XM_017007137.1:c.5459C>T	XP_016862626.1:p.Ser1820Leu
XM_017007138.1:c.5456C>T	XP_016862627.1:p.Ser1819Leu
XM_017007139.1:c.5459C>T	XP_016862628.1:p.Ser1820Leu
XM_017007140.1:c.5399C>T	XP_016862629.1:p.Ser1800Leu
XM_017007141.1:c.5399C>T	XP_016862630.1:p.Ser1800Leu
XM_017007142.1:c.5375C>T	XP_016862631.1:p.Ser1792Leu
XM_017007143.1:c.5375C>T	XP_016862632.1:p.Ser1792Leu
XM_017007144.1:c.5375C>T	XP_016862633.1:p.Ser1792Leu
XM_017007145.1:c.5330C>T	XP_016862634.1:p.Ser1777Leu
NM_001128840.3:c.5204C>T MANE Select	NP_001122312.1:p.Ser1735Leu
NM_000720.4:c.5264C>T MANE Plus Clinical	NP_000711.1:p.Ser1755Leu
NM_001128839.3:c.5159C>T	NP_001122311.1:p.Ser1720Leu