Canonical Allele Identifier: CA2455454

Gene: CACNA1D

Linked Data

• ClinVar Variation Id: 1420236
• ClinVar RCV Id: RCV001943494
• dbSNP Id: rs192849222
• ExAC: 3:53845425 A / G
• gnomAD v2: 3-53845425-A-G
• gnomAD v3: 3-53811398-A-G
• gnomAD v4: 3-53811398-A-G
• MyVariant Identifiers: chr3:g.53845425A>G (hg19) ; chr3:g.53811398A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53811398A>G , CM000665.2:g.53811398A>G	GRCh38
NC_000003.11:g.53845425A>G , CM000665.1:g.53845425A>G	GRCh37
NC_000003.10:g.53820465A>G	NCBI36
NG_032999.1:g.321350A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.6538A>G	ENSP00000418014.2:p.Thr2180Ala
ENST00000636581.2:n.1867A>G
ENST00000636633.2:n.3477A>G
ENST00000636999.2:n.1913A>G
ENST00000288139.11:c.6538A>G MANE Plus Clinical	ENSP00000288139.3:p.Thr2180Ala
ENST00000350061.11:c.6478A>G MANE Select	ENSP00000288133.5:p.Thr2160Ala
ENST00000422281.7:c.6406A>G	ENSP00000409174.2:p.Thr2136Ala
ENST00000636448.1:c.2599A>G
ENST00000636570.1:c.6433A>G	ENSP00000490183.1:p.Thr2145Ala
ENST00000636581.1:n.1867A>G
ENST00000636633.1:n.3477A>G
ENST00000636999.1:n.1905A>G
ENST00000637424.1:c.6505A>G	ENSP00000489769.1:p.Thr2169Ala
ENST00000288139.8:c.6538A>G	ENSP00000288139.3:p.Thr2180Ala
ENST00000350061.9:c.6478A>G	ENSP00000288133.5:p.Thr2160Ala
ENST00000422281.6:c.6406A>G	ENSP00000409174.2:p.Thr2136Ala
ENST00000481478.1:c.5557A>G	ENSP00000418014.1:p.Thr1853Ala
NM_000720.3:c.6538A>G	NP_000711.1:p.Thr2180Ala
NM_001128839.2:c.6406A>G	NP_001122311.1:p.Thr2136Ala
NM_001128840.2:c.6478A>G	NP_001122312.1:p.Thr2160Ala
XM_005265448.2:c.6433A>G	XP_005265505.1:p.Thr2145Ala
XM_011534094.1:c.6733A>G	XP_011532396.1:p.Thr2245Ala
XM_011534095.1:c.6622A>G	XP_011532397.1:p.Thr2208Ala
XM_011534096.1:c.6544A>G	XP_011532398.1:p.Thr2182Ala
XM_011534097.1:c.6196A>G	XP_011532399.1:p.Thr2066Ala
XM_011534098.1:c.6196A>G	XP_011532400.1:p.Thr2066Ala
XM_011534099.1:c.5821A>G	XP_011532401.1:p.Thr1941Ala
XM_011534100.1:c.6628A>G	XP_011532402.1:p.Thr2210Ala
XM_005265448.3:c.6433A>G	XP_005265505.1:p.Thr2145Ala
XM_011534094.2:c.6733A>G	XP_011532396.1:p.Thr2245Ala
XM_011534096.2:c.6544A>G	XP_011532398.1:p.Thr2182Ala
XM_011534097.2:c.6196A>G	XP_011532399.1:p.Thr2066Ala
XM_011534099.2:c.5821A>G	XP_011532401.1:p.Thr1941Ala
XM_011534100.2:c.6628A>G	XP_011532402.1:p.Thr2210Ala
XM_017007137.1:c.6733A>G	XP_016862626.1:p.Thr2245Ala
XM_017007138.1:c.6730A>G	XP_016862627.1:p.Thr2244Ala
XM_017007139.1:c.6706A>G	XP_016862628.1:p.Thr2236Ala
XM_017007140.1:c.6673A>G	XP_016862629.1:p.Thr2225Ala
XM_017007141.1:c.6673A>G	XP_016862630.1:p.Thr2225Ala
XM_017007142.1:c.6649A>G	XP_016862631.1:p.Thr2217Ala
XM_017007143.1:c.6649A>G	XP_016862632.1:p.Thr2217Ala
XM_017007144.1:c.6649A>G	XP_016862633.1:p.Thr2217Ala
XM_017007145.1:c.6604A>G	XP_016862634.1:p.Thr2202Ala
NM_001128840.3:c.6478A>G MANE Select	NP_001122312.1:p.Thr2160Ala
NM_000720.4:c.6538A>G MANE Plus Clinical	NP_000711.1:p.Thr2180Ala
NM_001128839.3:c.6406A>G	NP_001122311.1:p.Thr2136Ala