Canonical Allele Identifier: CA433896073

Gene: CACNA1D

Linked Data

• dbSNP Id: rs1168792149
• gnomAD v2: 3-53835249-G-A
• gnomAD v4: 3-53801222-G-A
• MyVariant Identifiers: chr3:g.53835249G>A (hg19) ; chr3:g.53801222G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53801222G>A , CM000665.2:g.53801222G>A	GRCh38
NC_000003.11:g.53835249G>A , CM000665.1:g.53835249G>A	GRCh37
NC_000003.10:g.53810289G>A	NCBI36
NG_032999.1:g.311174G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.5265G>A	ENSP00000418014.2:p.Ser1755=
ENST00000636633.2:n.2204G>A
ENST00000636999.2:n.640G>A
ENST00000288139.11:c.5265G>A MANE Plus Clinical	ENSP00000288139.3:p.Ser1755=
ENST00000350061.11:c.5205G>A MANE Select	ENSP00000288133.5:p.Ser1735=
ENST00000422281.7:c.5160G>A	ENSP00000409174.2:p.Ser1720=
ENST00000636448.1:c.1326G>A
ENST00000636570.1:c.5160G>A	ENSP00000490183.1:p.Ser1720=
ENST00000636629.1:n.561G>A
ENST00000636633.1:n.2204G>A
ENST00000636999.1:n.632G>A
ENST00000637424.1:c.5232G>A	ENSP00000489769.1:p.Ser1744=
ENST00000288139.8:c.5265G>A	ENSP00000288139.3:p.Ser1755=
ENST00000350061.9:c.5205G>A	ENSP00000288133.5:p.Ser1735=
ENST00000422281.6:c.5160G>A	ENSP00000409174.2:p.Ser1720=
ENST00000481478.1:c.4284G>A	ENSP00000418014.1:p.Ser1428=
NM_000720.3:c.5265G>A	NP_000711.1:p.Ser1755=
NM_001128839.2:c.5160G>A	NP_001122311.1:p.Ser1720=
NM_001128840.2:c.5205G>A	NP_001122312.1:p.Ser1735=
XM_005265448.2:c.5160G>A	XP_005265505.1:p.Ser1720=
XM_011534094.1:c.5460G>A	XP_011532396.1:p.Ser1820=
XM_011534095.1:c.5349G>A	XP_011532397.1:p.Ser1783=
XM_011534096.1:c.5271G>A	XP_011532398.1:p.Ser1757=
XM_011534097.1:c.4923G>A	XP_011532399.1:p.Ser1641=
XM_011534098.1:c.4923G>A	XP_011532400.1:p.Ser1641=
XM_011534099.1:c.4548G>A	XP_011532401.1:p.Ser1516=
XM_011534100.1:c.5355G>A	XP_011532402.1:p.Ser1785=
XM_005265448.3:c.5160G>A	XP_005265505.1:p.Ser1720=
XM_011534094.2:c.5460G>A	XP_011532396.1:p.Ser1820=
XM_011534096.2:c.5271G>A	XP_011532398.1:p.Ser1757=
XM_011534097.2:c.4923G>A	XP_011532399.1:p.Ser1641=
XM_011534099.2:c.4548G>A	XP_011532401.1:p.Ser1516=
XM_011534100.2:c.5355G>A	XP_011532402.1:p.Ser1785=
XM_017007137.1:c.5460G>A	XP_016862626.1:p.Ser1820=
XM_017007138.1:c.5457G>A	XP_016862627.1:p.Ser1819=
XM_017007139.1:c.5460G>A	XP_016862628.1:p.Ser1820=
XM_017007140.1:c.5400G>A	XP_016862629.1:p.Ser1800=
XM_017007141.1:c.5400G>A	XP_016862630.1:p.Ser1800=
XM_017007142.1:c.5376G>A	XP_016862631.1:p.Ser1792=
XM_017007143.1:c.5376G>A	XP_016862632.1:p.Ser1792=
XM_017007144.1:c.5376G>A	XP_016862633.1:p.Ser1792=
XM_017007145.1:c.5331G>A	XP_016862634.1:p.Ser1777=
NM_001128840.3:c.5205G>A MANE Select	NP_001122312.1:p.Ser1735=
NM_000720.4:c.5265G>A MANE Plus Clinical	NP_000711.1:p.Ser1755=
NM_001128839.3:c.5160G>A	NP_001122311.1:p.Ser1720=