Canonical Allele Identifier: CA353251547

Gene: CACNA1D

Linked Data

• MyVariant Identifiers: chr3:g.53835378G>C (hg19) ; chr3:g.53801351G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53801351G>C , CM000665.2:g.53801351G>C	GRCh38
NC_000003.11:g.53835378G>C , CM000665.1:g.53835378G>C	GRCh37
NC_000003.10:g.53810418G>C	NCBI36
NG_032999.1:g.311303G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.5394G>C	ENSP00000418014.2:p.Glu1798Asp
ENST00000636633.2:n.2333G>C
ENST00000636999.2:n.769G>C
ENST00000288139.11:c.5394G>C MANE Plus Clinical	ENSP00000288139.3:p.Glu1798Asp
ENST00000350061.11:c.5334G>C MANE Select	ENSP00000288133.5:p.Glu1778Asp
ENST00000422281.7:c.5289G>C	ENSP00000409174.2:p.Glu1763Asp
ENST00000636448.1:c.1455G>C
ENST00000636570.1:c.5289G>C	ENSP00000490183.1:p.Glu1763Asp
ENST00000636629.1:n.690G>C
ENST00000636633.1:n.2333G>C
ENST00000636999.1:n.761G>C
ENST00000637424.1:c.5361G>C	ENSP00000489769.1:p.Glu1787Asp
ENST00000637844.1:n.88G>C
ENST00000288139.8:c.5394G>C	ENSP00000288139.3:p.Glu1798Asp
ENST00000350061.9:c.5334G>C	ENSP00000288133.5:p.Glu1778Asp
ENST00000422281.6:c.5289G>C	ENSP00000409174.2:p.Glu1763Asp
ENST00000481478.1:c.4413G>C	ENSP00000418014.1:p.Glu1471Asp
NM_000720.3:c.5394G>C	NP_000711.1:p.Glu1798Asp
NM_001128839.2:c.5289G>C	NP_001122311.1:p.Glu1763Asp
NM_001128840.2:c.5334G>C	NP_001122312.1:p.Glu1778Asp
XM_005265448.2:c.5289G>C	XP_005265505.1:p.Glu1763Asp
XM_011534094.1:c.5589G>C	XP_011532396.1:p.Glu1863Asp
XM_011534095.1:c.5478G>C	XP_011532397.1:p.Glu1826Asp
XM_011534096.1:c.5400G>C	XP_011532398.1:p.Glu1800Asp
XM_011534097.1:c.5052G>C	XP_011532399.1:p.Glu1684Asp
XM_011534098.1:c.5052G>C	XP_011532400.1:p.Glu1684Asp
XM_011534099.1:c.4677G>C	XP_011532401.1:p.Glu1559Asp
XM_011534100.1:c.5484G>C	XP_011532402.1:p.Glu1828Asp
XM_005265448.3:c.5289G>C	XP_005265505.1:p.Glu1763Asp
XM_011534094.2:c.5589G>C	XP_011532396.1:p.Glu1863Asp
XM_011534096.2:c.5400G>C	XP_011532398.1:p.Glu1800Asp
XM_011534097.2:c.5052G>C	XP_011532399.1:p.Glu1684Asp
XM_011534099.2:c.4677G>C	XP_011532401.1:p.Glu1559Asp
XM_011534100.2:c.5484G>C	XP_011532402.1:p.Glu1828Asp
XM_017007137.1:c.5589G>C	XP_016862626.1:p.Glu1863Asp
XM_017007138.1:c.5586G>C	XP_016862627.1:p.Glu1862Asp
XM_017007139.1:c.5589G>C	XP_016862628.1:p.Glu1863Asp
XM_017007140.1:c.5529G>C	XP_016862629.1:p.Glu1843Asp
XM_017007141.1:c.5529G>C	XP_016862630.1:p.Glu1843Asp
XM_017007142.1:c.5505G>C	XP_016862631.1:p.Glu1835Asp
XM_017007143.1:c.5505G>C	XP_016862632.1:p.Glu1835Asp
XM_017007144.1:c.5505G>C	XP_016862633.1:p.Glu1835Asp
XM_017007145.1:c.5460G>C	XP_016862634.1:p.Glu1820Asp
NM_001128840.3:c.5334G>C MANE Select	NP_001122312.1:p.Glu1778Asp
NM_000720.4:c.5394G>C MANE Plus Clinical	NP_000711.1:p.Glu1798Asp
NM_001128839.3:c.5289G>C	NP_001122311.1:p.Glu1763Asp