Canonical Allele Identifier: CA433896101
Gene: CACNA1D HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.53835264T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.53801237T>C , CM000665.2:g.53801237T>C GRCh38
NC_000003.11:g.53835264T>C , CM000665.1:g.53835264T>C GRCh37
NC_000003.10:g.53810304T>C NCBI36
NG_032999.1:g.311189T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000481478.2:c.5280T>C ENSP00000418014.2:p.His1760=
ENST00000636633.2:n.2219T>C
ENST00000636999.2:n.655T>C
ENST00000288139.11:c.5280T>C MANE Plus Clinical ENSP00000288139.3:p.His1760=
ENST00000350061.11:c.5220T>C MANE Select ENSP00000288133.5:p.His1740=
ENST00000422281.7:c.5175T>C ENSP00000409174.2:p.His1725=
ENST00000636448.1:c.1341T>C
ENST00000636570.1:c.5175T>C ENSP00000490183.1:p.His1725=
ENST00000636629.1:n.576T>C
ENST00000636633.1:n.2219T>C
ENST00000636999.1:n.647T>C
ENST00000637424.1:c.5247T>C ENSP00000489769.1:p.His1749=
ENST00000288139.8:c.5280T>C ENSP00000288139.3:p.His1760=
ENST00000350061.9:c.5220T>C ENSP00000288133.5:p.His1740=
ENST00000422281.6:c.5175T>C ENSP00000409174.2:p.His1725=
ENST00000481478.1:c.4299T>C ENSP00000418014.1:p.His1433=
NM_000720.3:c.5280T>C NP_000711.1:p.His1760=
NM_001128839.2:c.5175T>C NP_001122311.1:p.His1725=
NM_001128840.2:c.5220T>C NP_001122312.1:p.His1740=
XM_005265448.2:c.5175T>C XP_005265505.1:p.His1725=
XM_011534094.1:c.5475T>C XP_011532396.1:p.His1825=
XM_011534095.1:c.5364T>C XP_011532397.1:p.His1788=
XM_011534096.1:c.5286T>C XP_011532398.1:p.His1762=
XM_011534097.1:c.4938T>C XP_011532399.1:p.His1646=
XM_011534098.1:c.4938T>C XP_011532400.1:p.His1646=
XM_011534099.1:c.4563T>C XP_011532401.1:p.His1521=
XM_011534100.1:c.5370T>C XP_011532402.1:p.His1790=
XM_005265448.3:c.5175T>C XP_005265505.1:p.His1725=
XM_011534094.2:c.5475T>C XP_011532396.1:p.His1825=
XM_011534096.2:c.5286T>C XP_011532398.1:p.His1762=
XM_011534097.2:c.4938T>C XP_011532399.1:p.His1646=
XM_011534099.2:c.4563T>C XP_011532401.1:p.His1521=
XM_011534100.2:c.5370T>C XP_011532402.1:p.His1790=
XM_017007137.1:c.5475T>C XP_016862626.1:p.His1825=
XM_017007138.1:c.5472T>C XP_016862627.1:p.His1824=
XM_017007139.1:c.5475T>C XP_016862628.1:p.His1825=
XM_017007140.1:c.5415T>C XP_016862629.1:p.His1805=
XM_017007141.1:c.5415T>C XP_016862630.1:p.His1805=
XM_017007142.1:c.5391T>C XP_016862631.1:p.His1797=
XM_017007143.1:c.5391T>C XP_016862632.1:p.His1797=
XM_017007144.1:c.5391T>C XP_016862633.1:p.His1797=
XM_017007145.1:c.5346T>C XP_016862634.1:p.His1782=
NM_001128840.3:c.5220T>C MANE Select NP_001122312.1:p.His1740=
NM_000720.4:c.5280T>C MANE Plus Clinical NP_000711.1:p.His1760=
NM_001128839.3:c.5175T>C NP_001122311.1:p.His1725=