Canonical Allele Identifier: CA353237842

Gene: CACNA1D

Linked Data

• ClinVar Variation Id: 2971322
• ClinVar RCV Id: RCV003827504
• gnomAD v4: 3-53723811-A-G
• MyVariant Identifiers: chr3:g.53757838A>G (hg19) ; chr3:g.53723811A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53723811A>G , CM000665.2:g.53723811A>G	GRCh38
NC_000003.11:g.53757838A>G , CM000665.1:g.53757838A>G	GRCh37
NC_000003.10:g.53732878A>G	NCBI36
NG_032999.1:g.233763A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000481478.2:c.1972A>G	ENSP00000418014.2:p.Asn658Asp
ENST00000636627.2:c.1972A>G	ENSP00000490889.2:p.Asn658Asp
ENST00000288139.11:c.1972A>G MANE Plus Clinical	ENSP00000288139.3:p.Asn658Asp
ENST00000350061.11:c.1912A>G MANE Select	ENSP00000288133.5:p.Asn638Asp
ENST00000422281.7:c.1912A>G	ENSP00000409174.2:p.Asn638Asp
ENST00000636570.1:c.1912A>G	ENSP00000490183.1:p.Asn638Asp
ENST00000636627.1:c.1212A>G
ENST00000636938.1:c.1912A>G	ENSP00000490039.1:p.Asn638Asp
ENST00000637424.1:c.1984A>G	ENSP00000489769.1:p.Asn662Asp
ENST00000640483.1:c.1945A>G	ENSP00000491921.1:p.Asn649Asp
ENST00000288139.8:c.1972A>G	ENSP00000288139.3:p.Asn658Asp
ENST00000350061.9:c.1912A>G	ENSP00000288133.5:p.Asn638Asp
ENST00000422281.6:c.1912A>G	ENSP00000409174.2:p.Asn638Asp
ENST00000481478.1:c.991A>G	ENSP00000418014.1:p.Asn331Asp
NM_000720.3:c.1972A>G	NP_000711.1:p.Asn658Asp
NM_001128839.2:c.1912A>G	NP_001122311.1:p.Asn638Asp
NM_001128840.2:c.1912A>G	NP_001122312.1:p.Asn638Asp
XM_005265448.2:c.1912A>G	XP_005265505.1:p.Asn638Asp
XM_011534094.1:c.2083A>G	XP_011532396.1:p.Asn695Asp
XM_011534095.1:c.1972A>G	XP_011532397.1:p.Asn658Asp
XM_011534096.1:c.2023A>G	XP_011532398.1:p.Asn675Asp
XM_011534097.1:c.1546A>G	XP_011532399.1:p.Asn516Asp
XM_011534098.1:c.1546A>G	XP_011532400.1:p.Asn516Asp
XM_011534099.1:c.1171A>G	XP_011532401.1:p.Asn391Asp
XM_011534100.1:c.2023A>G	XP_011532402.1:p.Asn675Asp
XM_005265448.3:c.1912A>G	XP_005265505.1:p.Asn638Asp
XM_011534094.2:c.2083A>G	XP_011532396.1:p.Asn695Asp
XM_011534096.2:c.2023A>G	XP_011532398.1:p.Asn675Asp
XM_011534097.2:c.1546A>G	XP_011532399.1:p.Asn516Asp
XM_011534099.2:c.1171A>G	XP_011532401.1:p.Asn391Asp
XM_011534100.2:c.2023A>G	XP_011532402.1:p.Asn675Asp
XM_017007137.1:c.2083A>G	XP_016862626.1:p.Asn695Asp
XM_017007138.1:c.2083A>G	XP_016862627.1:p.Asn695Asp
XM_017007139.1:c.2083A>G	XP_016862628.1:p.Asn695Asp
XM_017007140.1:c.2023A>G	XP_016862629.1:p.Asn675Asp
XM_017007141.1:c.2023A>G	XP_016862630.1:p.Asn675Asp
XM_017007142.1:c.2083A>G	XP_016862631.1:p.Asn695Asp
XM_017007143.1:c.2083A>G	XP_016862632.1:p.Asn695Asp
XM_017007144.1:c.2083A>G	XP_016862633.1:p.Asn695Asp
XM_017007145.1:c.2083A>G	XP_016862634.1:p.Asn695Asp
NM_001128840.3:c.1912A>G MANE Select	NP_001122312.1:p.Asn638Asp
NM_000720.4:c.1972A>G MANE Plus Clinical	NP_000711.1:p.Asn658Asp
NM_001128839.3:c.1912A>G	NP_001122311.1:p.Asn638Asp