Canonical Allele Identifier: CA433896163

Gene: CACNA1D

Linked Data

• ClinVar Variation Id: 1933327
• ClinVar RCV Id: RCV002635949
• MyVariant Identifiers: chr3:g.53835312C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53801285C>T , CM000665.2:g.53801285C>T	GRCh38
NC_000003.11:g.53835312C>T , CM000665.1:g.53835312C>T	GRCh37
NC_000003.10:g.53810352C>T	NCBI36
NG_032999.1:g.311237C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.5328C>T	ENSP00000418014.2:p.Ala1776=
ENST00000636633.2:n.2267C>T
ENST00000636999.2:n.703C>T
ENST00000288139.11:c.5328C>T MANE Plus Clinical	ENSP00000288139.3:p.Ala1776=
ENST00000350061.11:c.5268C>T MANE Select	ENSP00000288133.5:p.Ala1756=
ENST00000422281.7:c.5223C>T	ENSP00000409174.2:p.Ala1741=
ENST00000636448.1:c.1389C>T
ENST00000636570.1:c.5223C>T	ENSP00000490183.1:p.Ala1741=
ENST00000636629.1:n.624C>T
ENST00000636633.1:n.2267C>T
ENST00000636999.1:n.695C>T
ENST00000637424.1:c.5295C>T	ENSP00000489769.1:p.Ala1765=
ENST00000637844.1:n.22C>T
ENST00000288139.8:c.5328C>T	ENSP00000288139.3:p.Ala1776=
ENST00000350061.9:c.5268C>T	ENSP00000288133.5:p.Ala1756=
ENST00000422281.6:c.5223C>T	ENSP00000409174.2:p.Ala1741=
ENST00000481478.1:c.4347C>T	ENSP00000418014.1:p.Ala1449=
NM_000720.3:c.5328C>T	NP_000711.1:p.Ala1776=
NM_001128839.2:c.5223C>T	NP_001122311.1:p.Ala1741=
NM_001128840.2:c.5268C>T	NP_001122312.1:p.Ala1756=
XM_005265448.2:c.5223C>T	XP_005265505.1:p.Ala1741=
XM_011534094.1:c.5523C>T	XP_011532396.1:p.Ala1841=
XM_011534095.1:c.5412C>T	XP_011532397.1:p.Ala1804=
XM_011534096.1:c.5334C>T	XP_011532398.1:p.Ala1778=
XM_011534097.1:c.4986C>T	XP_011532399.1:p.Ala1662=
XM_011534098.1:c.4986C>T	XP_011532400.1:p.Ala1662=
XM_011534099.1:c.4611C>T	XP_011532401.1:p.Ala1537=
XM_011534100.1:c.5418C>T	XP_011532402.1:p.Ala1806=
XM_005265448.3:c.5223C>T	XP_005265505.1:p.Ala1741=
XM_011534094.2:c.5523C>T	XP_011532396.1:p.Ala1841=
XM_011534096.2:c.5334C>T	XP_011532398.1:p.Ala1778=
XM_011534097.2:c.4986C>T	XP_011532399.1:p.Ala1662=
XM_011534099.2:c.4611C>T	XP_011532401.1:p.Ala1537=
XM_011534100.2:c.5418C>T	XP_011532402.1:p.Ala1806=
XM_017007137.1:c.5523C>T	XP_016862626.1:p.Ala1841=
XM_017007138.1:c.5520C>T	XP_016862627.1:p.Ala1840=
XM_017007139.1:c.5523C>T	XP_016862628.1:p.Ala1841=
XM_017007140.1:c.5463C>T	XP_016862629.1:p.Ala1821=
XM_017007141.1:c.5463C>T	XP_016862630.1:p.Ala1821=
XM_017007142.1:c.5439C>T	XP_016862631.1:p.Ala1813=
XM_017007143.1:c.5439C>T	XP_016862632.1:p.Ala1813=
XM_017007144.1:c.5439C>T	XP_016862633.1:p.Ala1813=
XM_017007145.1:c.5394C>T	XP_016862634.1:p.Ala1798=
NM_001128840.3:c.5268C>T MANE Select	NP_001122312.1:p.Ala1756=
NM_000720.4:c.5328C>T MANE Plus Clinical	NP_000711.1:p.Ala1776=
NM_001128839.3:c.5223C>T	NP_001122311.1:p.Ala1741=