Canonical Allele Identifier: CA353251858

Gene: CACNA1D

Linked Data

• ClinVar Variation Id: 2695865
• ClinVar RCV Id: RCV003542708
• MyVariant Identifiers: chr3:g.53835442A>T (hg19) ; chr3:g.53801415A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53801415A>T , CM000665.2:g.53801415A>T	GRCh38
NC_000003.11:g.53835442A>T , CM000665.1:g.53835442A>T	GRCh37
NC_000003.10:g.53810482A>T	NCBI36
NG_032999.1:g.311367A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.5458A>T	ENSP00000418014.2:p.Ser1820Cys
ENST00000636633.2:n.2397A>T
ENST00000636999.2:n.833A>T
ENST00000288139.11:c.5458A>T MANE Plus Clinical	ENSP00000288139.3:p.Ser1820Cys
ENST00000350061.11:c.5398A>T MANE Select	ENSP00000288133.5:p.Ser1800Cys
ENST00000422281.7:c.5353A>T	ENSP00000409174.2:p.Ser1785Cys
ENST00000636448.1:c.1519A>T
ENST00000636570.1:c.5353A>T	ENSP00000490183.1:p.Ser1785Cys
ENST00000636629.1:n.754A>T
ENST00000636633.1:n.2397A>T
ENST00000636999.1:n.825A>T
ENST00000637424.1:c.5425A>T	ENSP00000489769.1:p.Ser1809Cys
ENST00000637844.1:n.152A>T
ENST00000288139.8:c.5458A>T	ENSP00000288139.3:p.Ser1820Cys
ENST00000350061.9:c.5398A>T	ENSP00000288133.5:p.Ser1800Cys
ENST00000422281.6:c.5353A>T	ENSP00000409174.2:p.Ser1785Cys
ENST00000481478.1:c.4477A>T	ENSP00000418014.1:p.Ser1493Cys
NM_000720.3:c.5458A>T	NP_000711.1:p.Ser1820Cys
NM_001128839.2:c.5353A>T	NP_001122311.1:p.Ser1785Cys
NM_001128840.2:c.5398A>T	NP_001122312.1:p.Ser1800Cys
XM_005265448.2:c.5353A>T	XP_005265505.1:p.Ser1785Cys
XM_011534094.1:c.5653A>T	XP_011532396.1:p.Ser1885Cys
XM_011534095.1:c.5542A>T	XP_011532397.1:p.Ser1848Cys
XM_011534096.1:c.5464A>T	XP_011532398.1:p.Ser1822Cys
XM_011534097.1:c.5116A>T	XP_011532399.1:p.Ser1706Cys
XM_011534098.1:c.5116A>T	XP_011532400.1:p.Ser1706Cys
XM_011534099.1:c.4741A>T	XP_011532401.1:p.Ser1581Cys
XM_011534100.1:c.5548A>T	XP_011532402.1:p.Ser1850Cys
XM_005265448.3:c.5353A>T	XP_005265505.1:p.Ser1785Cys
XM_011534094.2:c.5653A>T	XP_011532396.1:p.Ser1885Cys
XM_011534096.2:c.5464A>T	XP_011532398.1:p.Ser1822Cys
XM_011534097.2:c.5116A>T	XP_011532399.1:p.Ser1706Cys
XM_011534099.2:c.4741A>T	XP_011532401.1:p.Ser1581Cys
XM_011534100.2:c.5548A>T	XP_011532402.1:p.Ser1850Cys
XM_017007137.1:c.5653A>T	XP_016862626.1:p.Ser1885Cys
XM_017007138.1:c.5650A>T	XP_016862627.1:p.Ser1884Cys
XM_017007139.1:c.5653A>T	XP_016862628.1:p.Ser1885Cys
XM_017007140.1:c.5593A>T	XP_016862629.1:p.Ser1865Cys
XM_017007141.1:c.5593A>T	XP_016862630.1:p.Ser1865Cys
XM_017007142.1:c.5569A>T	XP_016862631.1:p.Ser1857Cys
XM_017007143.1:c.5569A>T	XP_016862632.1:p.Ser1857Cys
XM_017007144.1:c.5569A>T	XP_016862633.1:p.Ser1857Cys
XM_017007145.1:c.5524A>T	XP_016862634.1:p.Ser1842Cys
NM_001128840.3:c.5398A>T MANE Select	NP_001122312.1:p.Ser1800Cys
NM_000720.4:c.5458A>T MANE Plus Clinical	NP_000711.1:p.Ser1820Cys
NM_001128839.3:c.5353A>T	NP_001122311.1:p.Ser1785Cys