Canonical Allele Identifier: CA353250646

Gene: CACNA1D

Linked Data

• MyVariant Identifiers: chr3:g.53835263A>T (hg19) ; chr3:g.53801236A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53801236A>T , CM000665.2:g.53801236A>T	GRCh38
NC_000003.11:g.53835263A>T , CM000665.1:g.53835263A>T	GRCh37
NC_000003.10:g.53810303A>T	NCBI36
NG_032999.1:g.311188A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.5279A>T	ENSP00000418014.2:p.His1760Leu
ENST00000636633.2:n.2218A>T
ENST00000636999.2:n.654A>T
ENST00000288139.11:c.5279A>T MANE Plus Clinical	ENSP00000288139.3:p.His1760Leu
ENST00000350061.11:c.5219A>T MANE Select	ENSP00000288133.5:p.His1740Leu
ENST00000422281.7:c.5174A>T	ENSP00000409174.2:p.His1725Leu
ENST00000636448.1:c.1340A>T
ENST00000636570.1:c.5174A>T	ENSP00000490183.1:p.His1725Leu
ENST00000636629.1:n.575A>T
ENST00000636633.1:n.2218A>T
ENST00000636999.1:n.646A>T
ENST00000637424.1:c.5246A>T	ENSP00000489769.1:p.His1749Leu
ENST00000288139.8:c.5279A>T	ENSP00000288139.3:p.His1760Leu
ENST00000350061.9:c.5219A>T	ENSP00000288133.5:p.His1740Leu
ENST00000422281.6:c.5174A>T	ENSP00000409174.2:p.His1725Leu
ENST00000481478.1:c.4298A>T	ENSP00000418014.1:p.His1433Leu
NM_000720.3:c.5279A>T	NP_000711.1:p.His1760Leu
NM_001128839.2:c.5174A>T	NP_001122311.1:p.His1725Leu
NM_001128840.2:c.5219A>T	NP_001122312.1:p.His1740Leu
XM_005265448.2:c.5174A>T	XP_005265505.1:p.His1725Leu
XM_011534094.1:c.5474A>T	XP_011532396.1:p.His1825Leu
XM_011534095.1:c.5363A>T	XP_011532397.1:p.His1788Leu
XM_011534096.1:c.5285A>T	XP_011532398.1:p.His1762Leu
XM_011534097.1:c.4937A>T	XP_011532399.1:p.His1646Leu
XM_011534098.1:c.4937A>T	XP_011532400.1:p.His1646Leu
XM_011534099.1:c.4562A>T	XP_011532401.1:p.His1521Leu
XM_011534100.1:c.5369A>T	XP_011532402.1:p.His1790Leu
XM_005265448.3:c.5174A>T	XP_005265505.1:p.His1725Leu
XM_011534094.2:c.5474A>T	XP_011532396.1:p.His1825Leu
XM_011534096.2:c.5285A>T	XP_011532398.1:p.His1762Leu
XM_011534097.2:c.4937A>T	XP_011532399.1:p.His1646Leu
XM_011534099.2:c.4562A>T	XP_011532401.1:p.His1521Leu
XM_011534100.2:c.5369A>T	XP_011532402.1:p.His1790Leu
XM_017007137.1:c.5474A>T	XP_016862626.1:p.His1825Leu
XM_017007138.1:c.5471A>T	XP_016862627.1:p.His1824Leu
XM_017007139.1:c.5474A>T	XP_016862628.1:p.His1825Leu
XM_017007140.1:c.5414A>T	XP_016862629.1:p.His1805Leu
XM_017007141.1:c.5414A>T	XP_016862630.1:p.His1805Leu
XM_017007142.1:c.5390A>T	XP_016862631.1:p.His1797Leu
XM_017007143.1:c.5390A>T	XP_016862632.1:p.His1797Leu
XM_017007144.1:c.5390A>T	XP_016862633.1:p.His1797Leu
XM_017007145.1:c.5345A>T	XP_016862634.1:p.His1782Leu
NM_001128840.3:c.5219A>T MANE Select	NP_001122312.1:p.His1740Leu
NM_000720.4:c.5279A>T MANE Plus Clinical	NP_000711.1:p.His1760Leu
NM_001128839.3:c.5174A>T	NP_001122311.1:p.His1725Leu