Canonical Allele Identifier: CA353251770

Gene: CACNA1D

Linked Data

• MyVariant Identifiers: chr3:g.53835426G>C (hg19) ; chr3:g.53801399G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53801399G>C , CM000665.2:g.53801399G>C	GRCh38
NC_000003.11:g.53835426G>C , CM000665.1:g.53835426G>C	GRCh37
NC_000003.10:g.53810466G>C	NCBI36
NG_032999.1:g.311351G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.5442G>C	ENSP00000418014.2:p.Glu1814Asp
ENST00000636633.2:n.2381G>C
ENST00000636999.2:n.817G>C
ENST00000288139.11:c.5442G>C MANE Plus Clinical	ENSP00000288139.3:p.Glu1814Asp
ENST00000350061.11:c.5382G>C MANE Select	ENSP00000288133.5:p.Glu1794Asp
ENST00000422281.7:c.5337G>C	ENSP00000409174.2:p.Glu1779Asp
ENST00000636448.1:c.1503G>C
ENST00000636570.1:c.5337G>C	ENSP00000490183.1:p.Glu1779Asp
ENST00000636629.1:n.738G>C
ENST00000636633.1:n.2381G>C
ENST00000636999.1:n.809G>C
ENST00000637424.1:c.5409G>C	ENSP00000489769.1:p.Glu1803Asp
ENST00000637844.1:n.136G>C
ENST00000288139.8:c.5442G>C	ENSP00000288139.3:p.Glu1814Asp
ENST00000350061.9:c.5382G>C	ENSP00000288133.5:p.Glu1794Asp
ENST00000422281.6:c.5337G>C	ENSP00000409174.2:p.Glu1779Asp
ENST00000481478.1:c.4461G>C	ENSP00000418014.1:p.Glu1487Asp
NM_000720.3:c.5442G>C	NP_000711.1:p.Glu1814Asp
NM_001128839.2:c.5337G>C	NP_001122311.1:p.Glu1779Asp
NM_001128840.2:c.5382G>C	NP_001122312.1:p.Glu1794Asp
XM_005265448.2:c.5337G>C	XP_005265505.1:p.Glu1779Asp
XM_011534094.1:c.5637G>C	XP_011532396.1:p.Glu1879Asp
XM_011534095.1:c.5526G>C	XP_011532397.1:p.Glu1842Asp
XM_011534096.1:c.5448G>C	XP_011532398.1:p.Glu1816Asp
XM_011534097.1:c.5100G>C	XP_011532399.1:p.Glu1700Asp
XM_011534098.1:c.5100G>C	XP_011532400.1:p.Glu1700Asp
XM_011534099.1:c.4725G>C	XP_011532401.1:p.Glu1575Asp
XM_011534100.1:c.5532G>C	XP_011532402.1:p.Glu1844Asp
XM_005265448.3:c.5337G>C	XP_005265505.1:p.Glu1779Asp
XM_011534094.2:c.5637G>C	XP_011532396.1:p.Glu1879Asp
XM_011534096.2:c.5448G>C	XP_011532398.1:p.Glu1816Asp
XM_011534097.2:c.5100G>C	XP_011532399.1:p.Glu1700Asp
XM_011534099.2:c.4725G>C	XP_011532401.1:p.Glu1575Asp
XM_011534100.2:c.5532G>C	XP_011532402.1:p.Glu1844Asp
XM_017007137.1:c.5637G>C	XP_016862626.1:p.Glu1879Asp
XM_017007138.1:c.5634G>C	XP_016862627.1:p.Glu1878Asp
XM_017007139.1:c.5637G>C	XP_016862628.1:p.Glu1879Asp
XM_017007140.1:c.5577G>C	XP_016862629.1:p.Glu1859Asp
XM_017007141.1:c.5577G>C	XP_016862630.1:p.Glu1859Asp
XM_017007142.1:c.5553G>C	XP_016862631.1:p.Glu1851Asp
XM_017007143.1:c.5553G>C	XP_016862632.1:p.Glu1851Asp
XM_017007144.1:c.5553G>C	XP_016862633.1:p.Glu1851Asp
XM_017007145.1:c.5508G>C	XP_016862634.1:p.Glu1836Asp
NM_001128840.3:c.5382G>C MANE Select	NP_001122312.1:p.Glu1794Asp
NM_000720.4:c.5442G>C MANE Plus Clinical	NP_000711.1:p.Glu1814Asp
NM_001128839.3:c.5337G>C	NP_001122311.1:p.Glu1779Asp