Canonical Allele Identifier: CA15285900

Gene: CACNA1D

Linked Data

• dbSNP Id: rs1401492
• gnomAD v2: 3-53680124-C-T
• gnomAD v3: 3-53646097-C-T
• gnomAD v4: 3-53646097-C-T
• MyVariant Identifiers: chr3:g.53680124C>T (hg19) ; chr3:g.53646097C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53646097C>T , CM000665.2:g.53646097C>T	GRCh38
NC_000003.11:g.53680124C>T , CM000665.1:g.53680124C>T	GRCh37
NC_000003.10:g.53655164C>T	NCBI36
NG_032999.1:g.156049C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000481478.2:c.484-4682C>T	ENSP00000418014.2:n.484-4682C>T
ENST00000636627.2:c.484-4682C>T	ENSP00000490889.2:n.484-4682C>T
ENST00000288139.11:c.484-4682C>T MANE Plus Clinical	ENSP00000288139.3:n.484-4682C>T
ENST00000350061.11:c.484-4682C>T MANE Select	ENSP00000288133.5:n.484-4682C>T
ENST00000422281.7:c.484-4682C>T	ENSP00000409174.2:n.484-4682C>T
ENST00000636480.1:n.492-4682C>T
ENST00000636570.1:c.484-4682C>T	ENSP00000490183.1:n.484-4682C>T
ENST00000636938.1:c.484-4682C>T	ENSP00000490039.1:n.484-4682C>T
ENST00000637424.1:c.556-4682C>T	ENSP00000489769.1:n.556-4682C>T
ENST00000640483.1:c.457-4682C>T	ENSP00000491921.1:n.457-4682C>T
ENST00000288139.8:c.484-4682C>T	ENSP00000288139.3:n.484-4682C>T
ENST00000350061.9:c.484-4682C>T	ENSP00000288133.5:n.484-4682C>T
ENST00000422281.6:c.484-4682C>T	ENSP00000409174.2:n.484-4682C>T
NM_000720.3:c.484-4682C>T	NP_000711.1:n.484-4682C>T
NM_001128839.2:c.484-4682C>T	NP_001122311.1:n.484-4682C>T
NM_001128840.2:c.484-4682C>T	NP_001122312.1:n.484-4682C>T
XM_005265448.2:c.484-4682C>T	XP_005265505.1:n.484-4682C>T
XM_011534094.1:c.595-4682C>T	XP_011532396.1:n.595-4682C>T
XM_011534095.1:c.484-4682C>T	XP_011532397.1:n.484-4682C>T
XM_011534096.1:c.595-4682C>T	XP_011532398.1:n.595-4682C>T
XM_011534097.1:c.58-4682C>T	XP_011532399.1:n.58-4682C>T
XM_011534098.1:c.58-4682C>T	XP_011532400.1:n.58-4682C>T
XM_011534100.1:c.595-4682C>T	XP_011532402.1:n.595-4682C>T
XM_005265448.3:c.484-4682C>T	XP_005265505.1:n.484-4682C>T
XM_011534094.2:c.595-4682C>T	XP_011532396.1:n.595-4682C>T
XM_011534096.2:c.595-4682C>T	XP_011532398.1:n.595-4682C>T
XM_011534097.2:c.58-4682C>T	XP_011532399.1:n.58-4682C>T
XM_011534100.2:c.595-4682C>T	XP_011532402.1:n.595-4682C>T
XM_017007137.1:c.595-4682C>T	XP_016862626.1:n.595-4682C>T
XM_017007138.1:c.595-4682C>T	XP_016862627.1:n.595-4682C>T
XM_017007139.1:c.595-4682C>T	XP_016862628.1:n.595-4682C>T
XM_017007140.1:c.595-4682C>T	XP_016862629.1:n.595-4682C>T
XM_017007141.1:c.595-4682C>T	XP_016862630.1:n.595-4682C>T
XM_017007142.1:c.595-4682C>T	XP_016862631.1:n.595-4682C>T
XM_017007143.1:c.595-4682C>T	XP_016862632.1:n.595-4682C>T
XM_017007144.1:c.595-4682C>T	XP_016862633.1:n.595-4682C>T
XM_017007145.1:c.595-4682C>T	XP_016862634.1:n.595-4682C>T
NM_001128840.3:c.484-4682C>T MANE Select	NP_001122312.1:n.484-4682C>T
NM_000720.4:c.484-4682C>T MANE Plus Clinical	NP_000711.1:n.484-4682C>T
NM_001128839.3:c.484-4682C>T	NP_001122311.1:n.484-4682C>T