Canonical Allele Identifier: CA433804107

Gene: CACNA1D

Linked Data

• MyVariant Identifiers: chr3:g.53835387T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53801360T>G , CM000665.2:g.53801360T>G	GRCh38
NC_000003.11:g.53835387T>G , CM000665.1:g.53835387T>G	GRCh37
NC_000003.10:g.53810427T>G	NCBI36
NG_032999.1:g.311312T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.5403T>G	ENSP00000418014.2:p.Ser1801=
ENST00000636633.2:n.2342T>G
ENST00000636999.2:n.778T>G
ENST00000288139.11:c.5403T>G MANE Plus Clinical	ENSP00000288139.3:p.Ser1801=
ENST00000350061.11:c.5343T>G MANE Select	ENSP00000288133.5:p.Ser1781=
ENST00000422281.7:c.5298T>G	ENSP00000409174.2:p.Ser1766=
ENST00000636448.1:c.1464T>G
ENST00000636570.1:c.5298T>G	ENSP00000490183.1:p.Ser1766=
ENST00000636629.1:n.699T>G
ENST00000636633.1:n.2342T>G
ENST00000636999.1:n.770T>G
ENST00000637424.1:c.5370T>G	ENSP00000489769.1:p.Ser1790=
ENST00000637844.1:n.97T>G
ENST00000288139.8:c.5403T>G	ENSP00000288139.3:p.Ser1801=
ENST00000350061.9:c.5343T>G	ENSP00000288133.5:p.Ser1781=
ENST00000422281.6:c.5298T>G	ENSP00000409174.2:p.Ser1766=
ENST00000481478.1:c.4422T>G	ENSP00000418014.1:p.Ser1474=
NM_000720.3:c.5403T>G	NP_000711.1:p.Ser1801=
NM_001128839.2:c.5298T>G	NP_001122311.1:p.Ser1766=
NM_001128840.2:c.5343T>G	NP_001122312.1:p.Ser1781=
XM_005265448.2:c.5298T>G	XP_005265505.1:p.Ser1766=
XM_011534094.1:c.5598T>G	XP_011532396.1:p.Ser1866=
XM_011534095.1:c.5487T>G	XP_011532397.1:p.Ser1829=
XM_011534096.1:c.5409T>G	XP_011532398.1:p.Ser1803=
XM_011534097.1:c.5061T>G	XP_011532399.1:p.Ser1687=
XM_011534098.1:c.5061T>G	XP_011532400.1:p.Ser1687=
XM_011534099.1:c.4686T>G	XP_011532401.1:p.Ser1562=
XM_011534100.1:c.5493T>G	XP_011532402.1:p.Ser1831=
XM_005265448.3:c.5298T>G	XP_005265505.1:p.Ser1766=
XM_011534094.2:c.5598T>G	XP_011532396.1:p.Ser1866=
XM_011534096.2:c.5409T>G	XP_011532398.1:p.Ser1803=
XM_011534097.2:c.5061T>G	XP_011532399.1:p.Ser1687=
XM_011534099.2:c.4686T>G	XP_011532401.1:p.Ser1562=
XM_011534100.2:c.5493T>G	XP_011532402.1:p.Ser1831=
XM_017007137.1:c.5598T>G	XP_016862626.1:p.Ser1866=
XM_017007138.1:c.5595T>G	XP_016862627.1:p.Ser1865=
XM_017007139.1:c.5598T>G	XP_016862628.1:p.Ser1866=
XM_017007140.1:c.5538T>G	XP_016862629.1:p.Ser1846=
XM_017007141.1:c.5538T>G	XP_016862630.1:p.Ser1846=
XM_017007142.1:c.5514T>G	XP_016862631.1:p.Ser1838=
XM_017007143.1:c.5514T>G	XP_016862632.1:p.Ser1838=
XM_017007144.1:c.5514T>G	XP_016862633.1:p.Ser1838=
XM_017007145.1:c.5469T>G	XP_016862634.1:p.Ser1823=
NM_001128840.3:c.5343T>G MANE Select	NP_001122312.1:p.Ser1781=
NM_000720.4:c.5403T>G MANE Plus Clinical	NP_000711.1:p.Ser1801=
NM_001128839.3:c.5298T>G	NP_001122311.1:p.Ser1766=