Canonical Allele Identifier: CA353259910

Gene: CACNA1D

Linked Data

• dbSNP Id: rs1361280482
• gnomAD v2: 3-53845420-T-A
• gnomAD v3: 3-53811393-T-A
• gnomAD v4: 3-53811393-T-A
• MyVariant Identifiers: chr3:g.53845420T>A (hg19) ; chr3:g.53811393T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53811393T>A , CM000665.2:g.53811393T>A	GRCh38
NC_000003.11:g.53845420T>A , CM000665.1:g.53845420T>A	GRCh37
NC_000003.10:g.53820460T>A	NCBI36
NG_032999.1:g.321345T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.6533T>A	ENSP00000418014.2:p.Ile2178Asn
ENST00000636581.2:n.1862T>A
ENST00000636633.2:n.3472T>A
ENST00000636999.2:n.1908T>A
ENST00000288139.11:c.6533T>A MANE Plus Clinical	ENSP00000288139.3:p.Ile2178Asn
ENST00000350061.11:c.6473T>A MANE Select	ENSP00000288133.5:p.Ile2158Asn
ENST00000422281.7:c.6401T>A	ENSP00000409174.2:p.Ile2134Asn
ENST00000636448.1:c.2594T>A
ENST00000636570.1:c.6428T>A	ENSP00000490183.1:p.Ile2143Asn
ENST00000636581.1:n.1862T>A
ENST00000636633.1:n.3472T>A
ENST00000636999.1:n.1900T>A
ENST00000637424.1:c.6500T>A	ENSP00000489769.1:p.Ile2167Asn
ENST00000288139.8:c.6533T>A	ENSP00000288139.3:p.Ile2178Asn
ENST00000350061.9:c.6473T>A	ENSP00000288133.5:p.Ile2158Asn
ENST00000422281.6:c.6401T>A	ENSP00000409174.2:p.Ile2134Asn
ENST00000481478.1:c.5552T>A	ENSP00000418014.1:p.Ile1851Asn
NM_000720.3:c.6533T>A	NP_000711.1:p.Ile2178Asn
NM_001128839.2:c.6401T>A	NP_001122311.1:p.Ile2134Asn
NM_001128840.2:c.6473T>A	NP_001122312.1:p.Ile2158Asn
XM_005265448.2:c.6428T>A	XP_005265505.1:p.Ile2143Asn
XM_011534094.1:c.6728T>A	XP_011532396.1:p.Ile2243Asn
XM_011534095.1:c.6617T>A	XP_011532397.1:p.Ile2206Asn
XM_011534096.1:c.6539T>A	XP_011532398.1:p.Ile2180Asn
XM_011534097.1:c.6191T>A	XP_011532399.1:p.Ile2064Asn
XM_011534098.1:c.6191T>A	XP_011532400.1:p.Ile2064Asn
XM_011534099.1:c.5816T>A	XP_011532401.1:p.Ile1939Asn
XM_011534100.1:c.6623T>A	XP_011532402.1:p.Ile2208Asn
XM_005265448.3:c.6428T>A	XP_005265505.1:p.Ile2143Asn
XM_011534094.2:c.6728T>A	XP_011532396.1:p.Ile2243Asn
XM_011534096.2:c.6539T>A	XP_011532398.1:p.Ile2180Asn
XM_011534097.2:c.6191T>A	XP_011532399.1:p.Ile2064Asn
XM_011534099.2:c.5816T>A	XP_011532401.1:p.Ile1939Asn
XM_011534100.2:c.6623T>A	XP_011532402.1:p.Ile2208Asn
XM_017007137.1:c.6728T>A	XP_016862626.1:p.Ile2243Asn
XM_017007138.1:c.6725T>A	XP_016862627.1:p.Ile2242Asn
XM_017007139.1:c.6701T>A	XP_016862628.1:p.Ile2234Asn
XM_017007140.1:c.6668T>A	XP_016862629.1:p.Ile2223Asn
XM_017007141.1:c.6668T>A	XP_016862630.1:p.Ile2223Asn
XM_017007142.1:c.6644T>A	XP_016862631.1:p.Ile2215Asn
XM_017007143.1:c.6644T>A	XP_016862632.1:p.Ile2215Asn
XM_017007144.1:c.6644T>A	XP_016862633.1:p.Ile2215Asn
XM_017007145.1:c.6599T>A	XP_016862634.1:p.Ile2200Asn
NM_001128840.3:c.6473T>A MANE Select	NP_001122312.1:p.Ile2158Asn
NM_000720.4:c.6533T>A MANE Plus Clinical	NP_000711.1:p.Ile2178Asn
NM_001128839.3:c.6401T>A	NP_001122311.1:p.Ile2134Asn