Canonical Allele Identifier: CA353251708

Gene: CACNA1D

Linked Data

• MyVariant Identifiers: chr3:g.53835412A>G (hg19) ; chr3:g.53801385A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53801385A>G , CM000665.2:g.53801385A>G	GRCh38
NC_000003.11:g.53835412A>G , CM000665.1:g.53835412A>G	GRCh37
NC_000003.10:g.53810452A>G	NCBI36
NG_032999.1:g.311337A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.5428A>G	ENSP00000418014.2:p.Lys1810Glu
ENST00000636633.2:n.2367A>G
ENST00000636999.2:n.803A>G
ENST00000288139.11:c.5428A>G MANE Plus Clinical	ENSP00000288139.3:p.Lys1810Glu
ENST00000350061.11:c.5368A>G MANE Select	ENSP00000288133.5:p.Lys1790Glu
ENST00000422281.7:c.5323A>G	ENSP00000409174.2:p.Lys1775Glu
ENST00000636448.1:c.1489A>G
ENST00000636570.1:c.5323A>G	ENSP00000490183.1:p.Lys1775Glu
ENST00000636629.1:n.724A>G
ENST00000636633.1:n.2367A>G
ENST00000636999.1:n.795A>G
ENST00000637424.1:c.5395A>G	ENSP00000489769.1:p.Lys1799Glu
ENST00000637844.1:n.122A>G
ENST00000288139.8:c.5428A>G	ENSP00000288139.3:p.Lys1810Glu
ENST00000350061.9:c.5368A>G	ENSP00000288133.5:p.Lys1790Glu
ENST00000422281.6:c.5323A>G	ENSP00000409174.2:p.Lys1775Glu
ENST00000481478.1:c.4447A>G	ENSP00000418014.1:p.Lys1483Glu
NM_000720.3:c.5428A>G	NP_000711.1:p.Lys1810Glu
NM_001128839.2:c.5323A>G	NP_001122311.1:p.Lys1775Glu
NM_001128840.2:c.5368A>G	NP_001122312.1:p.Lys1790Glu
XM_005265448.2:c.5323A>G	XP_005265505.1:p.Lys1775Glu
XM_011534094.1:c.5623A>G	XP_011532396.1:p.Lys1875Glu
XM_011534095.1:c.5512A>G	XP_011532397.1:p.Lys1838Glu
XM_011534096.1:c.5434A>G	XP_011532398.1:p.Lys1812Glu
XM_011534097.1:c.5086A>G	XP_011532399.1:p.Lys1696Glu
XM_011534098.1:c.5086A>G	XP_011532400.1:p.Lys1696Glu
XM_011534099.1:c.4711A>G	XP_011532401.1:p.Lys1571Glu
XM_011534100.1:c.5518A>G	XP_011532402.1:p.Lys1840Glu
XM_005265448.3:c.5323A>G	XP_005265505.1:p.Lys1775Glu
XM_011534094.2:c.5623A>G	XP_011532396.1:p.Lys1875Glu
XM_011534096.2:c.5434A>G	XP_011532398.1:p.Lys1812Glu
XM_011534097.2:c.5086A>G	XP_011532399.1:p.Lys1696Glu
XM_011534099.2:c.4711A>G	XP_011532401.1:p.Lys1571Glu
XM_011534100.2:c.5518A>G	XP_011532402.1:p.Lys1840Glu
XM_017007137.1:c.5623A>G	XP_016862626.1:p.Lys1875Glu
XM_017007138.1:c.5620A>G	XP_016862627.1:p.Lys1874Glu
XM_017007139.1:c.5623A>G	XP_016862628.1:p.Lys1875Glu
XM_017007140.1:c.5563A>G	XP_016862629.1:p.Lys1855Glu
XM_017007141.1:c.5563A>G	XP_016862630.1:p.Lys1855Glu
XM_017007142.1:c.5539A>G	XP_016862631.1:p.Lys1847Glu
XM_017007143.1:c.5539A>G	XP_016862632.1:p.Lys1847Glu
XM_017007144.1:c.5539A>G	XP_016862633.1:p.Lys1847Glu
XM_017007145.1:c.5494A>G	XP_016862634.1:p.Lys1832Glu
NM_001128840.3:c.5368A>G MANE Select	NP_001122312.1:p.Lys1790Glu
NM_000720.4:c.5428A>G MANE Plus Clinical	NP_000711.1:p.Lys1810Glu
NM_001128839.3:c.5323A>G	NP_001122311.1:p.Lys1775Glu