Canonical Allele Identifier: CA353251049

Gene: CACNA1D

Linked Data

• MyVariant Identifiers: chr3:g.53835352A>C (hg19) ; chr3:g.53801325A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53801325A>C , CM000665.2:g.53801325A>C	GRCh38
NC_000003.11:g.53835352A>C , CM000665.1:g.53835352A>C	GRCh37
NC_000003.10:g.53810392A>C	NCBI36
NG_032999.1:g.311277A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.5368A>C	ENSP00000418014.2:p.Lys1790Gln
ENST00000636633.2:n.2307A>C
ENST00000636999.2:n.743A>C
ENST00000288139.11:c.5368A>C MANE Plus Clinical	ENSP00000288139.3:p.Lys1790Gln
ENST00000350061.11:c.5308A>C MANE Select	ENSP00000288133.5:p.Lys1770Gln
ENST00000422281.7:c.5263A>C	ENSP00000409174.2:p.Lys1755Gln
ENST00000636448.1:c.1429A>C
ENST00000636570.1:c.5263A>C	ENSP00000490183.1:p.Lys1755Gln
ENST00000636629.1:n.664A>C
ENST00000636633.1:n.2307A>C
ENST00000636999.1:n.735A>C
ENST00000637424.1:c.5335A>C	ENSP00000489769.1:p.Lys1779Gln
ENST00000637844.1:n.62A>C
ENST00000288139.8:c.5368A>C	ENSP00000288139.3:p.Lys1790Gln
ENST00000350061.9:c.5308A>C	ENSP00000288133.5:p.Lys1770Gln
ENST00000422281.6:c.5263A>C	ENSP00000409174.2:p.Lys1755Gln
ENST00000481478.1:c.4387A>C	ENSP00000418014.1:p.Lys1463Gln
NM_000720.3:c.5368A>C	NP_000711.1:p.Lys1790Gln
NM_001128839.2:c.5263A>C	NP_001122311.1:p.Lys1755Gln
NM_001128840.2:c.5308A>C	NP_001122312.1:p.Lys1770Gln
XM_005265448.2:c.5263A>C	XP_005265505.1:p.Lys1755Gln
XM_011534094.1:c.5563A>C	XP_011532396.1:p.Lys1855Gln
XM_011534095.1:c.5452A>C	XP_011532397.1:p.Lys1818Gln
XM_011534096.1:c.5374A>C	XP_011532398.1:p.Lys1792Gln
XM_011534097.1:c.5026A>C	XP_011532399.1:p.Lys1676Gln
XM_011534098.1:c.5026A>C	XP_011532400.1:p.Lys1676Gln
XM_011534099.1:c.4651A>C	XP_011532401.1:p.Lys1551Gln
XM_011534100.1:c.5458A>C	XP_011532402.1:p.Lys1820Gln
XM_005265448.3:c.5263A>C	XP_005265505.1:p.Lys1755Gln
XM_011534094.2:c.5563A>C	XP_011532396.1:p.Lys1855Gln
XM_011534096.2:c.5374A>C	XP_011532398.1:p.Lys1792Gln
XM_011534097.2:c.5026A>C	XP_011532399.1:p.Lys1676Gln
XM_011534099.2:c.4651A>C	XP_011532401.1:p.Lys1551Gln
XM_011534100.2:c.5458A>C	XP_011532402.1:p.Lys1820Gln
XM_017007137.1:c.5563A>C	XP_016862626.1:p.Lys1855Gln
XM_017007138.1:c.5560A>C	XP_016862627.1:p.Lys1854Gln
XM_017007139.1:c.5563A>C	XP_016862628.1:p.Lys1855Gln
XM_017007140.1:c.5503A>C	XP_016862629.1:p.Lys1835Gln
XM_017007141.1:c.5503A>C	XP_016862630.1:p.Lys1835Gln
XM_017007142.1:c.5479A>C	XP_016862631.1:p.Lys1827Gln
XM_017007143.1:c.5479A>C	XP_016862632.1:p.Lys1827Gln
XM_017007144.1:c.5479A>C	XP_016862633.1:p.Lys1827Gln
XM_017007145.1:c.5434A>C	XP_016862634.1:p.Lys1812Gln
NM_001128840.3:c.5308A>C MANE Select	NP_001122312.1:p.Lys1770Gln
NM_000720.4:c.5368A>C MANE Plus Clinical	NP_000711.1:p.Lys1790Gln
NM_001128839.3:c.5263A>C	NP_001122311.1:p.Lys1755Gln