Canonical Allele Identifier: CA353250971

Gene: CACNA1D

Linked Data

• ClinVar Variation Id: 1722038
• ClinVar RCV Id: RCV002295106
• dbSNP Id: rs1272513758
• gnomAD v2: 3-53835333-G-A
• gnomAD v4: 3-53801306-G-A
• MyVariant Identifiers: chr3:g.53835333G>A (hg19) ; chr3:g.53801306G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53801306G>A , CM000665.2:g.53801306G>A	GRCh38
NC_000003.11:g.53835333G>A , CM000665.1:g.53835333G>A	GRCh37
NC_000003.10:g.53810373G>A	NCBI36
NG_032999.1:g.311258G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.5349G>A	ENSP00000418014.2:p.Met1783Ile
ENST00000636633.2:n.2288G>A
ENST00000636999.2:n.724G>A
ENST00000288139.11:c.5349G>A MANE Plus Clinical	ENSP00000288139.3:p.Met1783Ile
ENST00000350061.11:c.5289G>A MANE Select	ENSP00000288133.5:p.Met1763Ile
ENST00000422281.7:c.5244G>A	ENSP00000409174.2:p.Met1748Ile
ENST00000636448.1:c.1410G>A
ENST00000636570.1:c.5244G>A	ENSP00000490183.1:p.Met1748Ile
ENST00000636629.1:n.645G>A
ENST00000636633.1:n.2288G>A
ENST00000636999.1:n.716G>A
ENST00000637424.1:c.5316G>A	ENSP00000489769.1:p.Met1772Ile
ENST00000637844.1:n.43G>A
ENST00000288139.8:c.5349G>A	ENSP00000288139.3:p.Met1783Ile
ENST00000350061.9:c.5289G>A	ENSP00000288133.5:p.Met1763Ile
ENST00000422281.6:c.5244G>A	ENSP00000409174.2:p.Met1748Ile
ENST00000481478.1:c.4368G>A	ENSP00000418014.1:p.Met1456Ile
NM_000720.3:c.5349G>A	NP_000711.1:p.Met1783Ile
NM_001128839.2:c.5244G>A	NP_001122311.1:p.Met1748Ile
NM_001128840.2:c.5289G>A	NP_001122312.1:p.Met1763Ile
XM_005265448.2:c.5244G>A	XP_005265505.1:p.Met1748Ile
XM_011534094.1:c.5544G>A	XP_011532396.1:p.Met1848Ile
XM_011534095.1:c.5433G>A	XP_011532397.1:p.Met1811Ile
XM_011534096.1:c.5355G>A	XP_011532398.1:p.Met1785Ile
XM_011534097.1:c.5007G>A	XP_011532399.1:p.Met1669Ile
XM_011534098.1:c.5007G>A	XP_011532400.1:p.Met1669Ile
XM_011534099.1:c.4632G>A	XP_011532401.1:p.Met1544Ile
XM_011534100.1:c.5439G>A	XP_011532402.1:p.Met1813Ile
XM_005265448.3:c.5244G>A	XP_005265505.1:p.Met1748Ile
XM_011534094.2:c.5544G>A	XP_011532396.1:p.Met1848Ile
XM_011534096.2:c.5355G>A	XP_011532398.1:p.Met1785Ile
XM_011534097.2:c.5007G>A	XP_011532399.1:p.Met1669Ile
XM_011534099.2:c.4632G>A	XP_011532401.1:p.Met1544Ile
XM_011534100.2:c.5439G>A	XP_011532402.1:p.Met1813Ile
XM_017007137.1:c.5544G>A	XP_016862626.1:p.Met1848Ile
XM_017007138.1:c.5541G>A	XP_016862627.1:p.Met1847Ile
XM_017007139.1:c.5544G>A	XP_016862628.1:p.Met1848Ile
XM_017007140.1:c.5484G>A	XP_016862629.1:p.Met1828Ile
XM_017007141.1:c.5484G>A	XP_016862630.1:p.Met1828Ile
XM_017007142.1:c.5460G>A	XP_016862631.1:p.Met1820Ile
XM_017007143.1:c.5460G>A	XP_016862632.1:p.Met1820Ile
XM_017007144.1:c.5460G>A	XP_016862633.1:p.Met1820Ile
XM_017007145.1:c.5415G>A	XP_016862634.1:p.Met1805Ile
NM_001128840.3:c.5289G>A MANE Select	NP_001122312.1:p.Met1763Ile
NM_000720.4:c.5349G>A MANE Plus Clinical	NP_000711.1:p.Met1783Ile
NM_001128839.3:c.5244G>A	NP_001122311.1:p.Met1748Ile