Canonical Allele Identifier: CA353251916

Gene: CACNA1D

Linked Data

• gnomAD v4: 3-53801421-A-G
• MyVariant Identifiers: chr3:g.53835448A>G (hg19) ; chr3:g.53801421A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53801421A>G , CM000665.2:g.53801421A>G	GRCh38
NC_000003.11:g.53835448A>G , CM000665.1:g.53835448A>G	GRCh37
NC_000003.10:g.53810488A>G	NCBI36
NG_032999.1:g.311373A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.5464A>G	ENSP00000418014.2:p.Lys1822Glu
ENST00000636633.2:n.2403A>G
ENST00000636999.2:n.839A>G
ENST00000288139.11:c.5464A>G MANE Plus Clinical	ENSP00000288139.3:p.Lys1822Glu
ENST00000350061.11:c.5404A>G MANE Select	ENSP00000288133.5:p.Lys1802Glu
ENST00000422281.7:c.5359A>G	ENSP00000409174.2:p.Lys1787Glu
ENST00000636448.1:c.1525A>G
ENST00000636570.1:c.5359A>G	ENSP00000490183.1:p.Lys1787Glu
ENST00000636629.1:n.760A>G
ENST00000636633.1:n.2403A>G
ENST00000636999.1:n.831A>G
ENST00000637424.1:c.5431A>G	ENSP00000489769.1:p.Lys1811Glu
ENST00000637844.1:n.158A>G
ENST00000288139.8:c.5464A>G	ENSP00000288139.3:p.Lys1822Glu
ENST00000350061.9:c.5404A>G	ENSP00000288133.5:p.Lys1802Glu
ENST00000422281.6:c.5359A>G	ENSP00000409174.2:p.Lys1787Glu
ENST00000481478.1:c.4483A>G	ENSP00000418014.1:p.Lys1495Glu
NM_000720.3:c.5464A>G	NP_000711.1:p.Lys1822Glu
NM_001128839.2:c.5359A>G	NP_001122311.1:p.Lys1787Glu
NM_001128840.2:c.5404A>G	NP_001122312.1:p.Lys1802Glu
XM_005265448.2:c.5359A>G	XP_005265505.1:p.Lys1787Glu
XM_011534094.1:c.5659A>G	XP_011532396.1:p.Lys1887Glu
XM_011534095.1:c.5548A>G	XP_011532397.1:p.Lys1850Glu
XM_011534096.1:c.5470A>G	XP_011532398.1:p.Lys1824Glu
XM_011534097.1:c.5122A>G	XP_011532399.1:p.Lys1708Glu
XM_011534098.1:c.5122A>G	XP_011532400.1:p.Lys1708Glu
XM_011534099.1:c.4747A>G	XP_011532401.1:p.Lys1583Glu
XM_011534100.1:c.5554A>G	XP_011532402.1:p.Lys1852Glu
XM_005265448.3:c.5359A>G	XP_005265505.1:p.Lys1787Glu
XM_011534094.2:c.5659A>G	XP_011532396.1:p.Lys1887Glu
XM_011534096.2:c.5470A>G	XP_011532398.1:p.Lys1824Glu
XM_011534097.2:c.5122A>G	XP_011532399.1:p.Lys1708Glu
XM_011534099.2:c.4747A>G	XP_011532401.1:p.Lys1583Glu
XM_011534100.2:c.5554A>G	XP_011532402.1:p.Lys1852Glu
XM_017007137.1:c.5659A>G	XP_016862626.1:p.Lys1887Glu
XM_017007138.1:c.5656A>G	XP_016862627.1:p.Lys1886Glu
XM_017007139.1:c.5659A>G	XP_016862628.1:p.Lys1887Glu
XM_017007140.1:c.5599A>G	XP_016862629.1:p.Lys1867Glu
XM_017007141.1:c.5599A>G	XP_016862630.1:p.Lys1867Glu
XM_017007142.1:c.5575A>G	XP_016862631.1:p.Lys1859Glu
XM_017007143.1:c.5575A>G	XP_016862632.1:p.Lys1859Glu
XM_017007144.1:c.5575A>G	XP_016862633.1:p.Lys1859Glu
XM_017007145.1:c.5530A>G	XP_016862634.1:p.Lys1844Glu
NM_001128840.3:c.5404A>G MANE Select	NP_001122312.1:p.Lys1802Glu
NM_000720.4:c.5464A>G MANE Plus Clinical	NP_000711.1:p.Lys1822Glu
NM_001128839.3:c.5359A>G	NP_001122311.1:p.Lys1787Glu