Canonical Allele Identifier: CA353250421

Gene: CACNA1D

Linked Data

• ClinVar Variation Id: 2130524
• ClinVar RCV Id: RCV003044585
• dbSNP Id: rs1281053080
• gnomAD v2: 3-53835227-T-C
• gnomAD v3: 3-53801200-T-C
• gnomAD v4: 3-53801200-T-C
• MyVariant Identifiers: chr3:g.53835227T>C (hg19) ; chr3:g.53801200T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53801200T>C , CM000665.2:g.53801200T>C	GRCh38
NC_000003.11:g.53835227T>C , CM000665.1:g.53835227T>C	GRCh37
NC_000003.10:g.53810267T>C	NCBI36
NG_032999.1:g.311152T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.5243T>C	ENSP00000418014.2:p.Leu1748Pro
ENST00000636633.2:n.2194-12T>C
ENST00000636999.2:n.618T>C
ENST00000288139.11:c.5243T>C MANE Plus Clinical	ENSP00000288139.3:p.Leu1748Pro
ENST00000350061.11:c.5183T>C MANE Select	ENSP00000288133.5:p.Leu1728Pro
ENST00000422281.7:c.5138T>C	ENSP00000409174.2:p.Leu1713Pro
ENST00000636448.1:c.1316-12T>C
ENST00000636570.1:c.5138T>C	ENSP00000490183.1:p.Leu1713Pro
ENST00000636629.1:n.539T>C
ENST00000636633.1:n.2194-12T>C
ENST00000636999.1:n.610T>C
ENST00000637424.1:c.5210T>C	ENSP00000489769.1:p.Leu1737Pro
ENST00000288139.8:c.5243T>C	ENSP00000288139.3:p.Leu1748Pro
ENST00000350061.9:c.5183T>C	ENSP00000288133.5:p.Leu1728Pro
ENST00000422281.6:c.5138T>C	ENSP00000409174.2:p.Leu1713Pro
ENST00000481478.1:c.4262T>C	ENSP00000418014.1:p.Leu1421Pro
NM_000720.3:c.5243T>C	NP_000711.1:p.Leu1748Pro
NM_001128839.2:c.5138T>C	NP_001122311.1:p.Leu1713Pro
NM_001128840.2:c.5183T>C	NP_001122312.1:p.Leu1728Pro
XM_005265448.2:c.5138T>C	XP_005265505.1:p.Leu1713Pro
XM_011534094.1:c.5438T>C	XP_011532396.1:p.Leu1813Pro
XM_011534095.1:c.5327T>C	XP_011532397.1:p.Leu1776Pro
XM_011534096.1:c.5249T>C	XP_011532398.1:p.Leu1750Pro
XM_011534097.1:c.4901T>C	XP_011532399.1:p.Leu1634Pro
XM_011534098.1:c.4901T>C	XP_011532400.1:p.Leu1634Pro
XM_011534099.1:c.4526T>C	XP_011532401.1:p.Leu1509Pro
XM_011534100.1:c.5333T>C	XP_011532402.1:p.Leu1778Pro
XM_005265448.3:c.5138T>C	XP_005265505.1:p.Leu1713Pro
XM_011534094.2:c.5438T>C	XP_011532396.1:p.Leu1813Pro
XM_011534096.2:c.5249T>C	XP_011532398.1:p.Leu1750Pro
XM_011534097.2:c.4901T>C	XP_011532399.1:p.Leu1634Pro
XM_011534099.2:c.4526T>C	XP_011532401.1:p.Leu1509Pro
XM_011534100.2:c.5333T>C	XP_011532402.1:p.Leu1778Pro
XM_017007137.1:c.5438T>C	XP_016862626.1:p.Leu1813Pro
XM_017007138.1:c.5435T>C	XP_016862627.1:p.Leu1812Pro
XM_017007139.1:c.5438T>C	XP_016862628.1:p.Leu1813Pro
XM_017007140.1:c.5378T>C	XP_016862629.1:p.Leu1793Pro
XM_017007141.1:c.5378T>C	XP_016862630.1:p.Leu1793Pro
XM_017007142.1:c.5354T>C	XP_016862631.1:p.Leu1785Pro
XM_017007143.1:c.5354T>C	XP_016862632.1:p.Leu1785Pro
XM_017007144.1:c.5354T>C	XP_016862633.1:p.Leu1785Pro
XM_017007145.1:c.5309T>C	XP_016862634.1:p.Leu1770Pro
NM_001128840.3:c.5183T>C MANE Select	NP_001122312.1:p.Leu1728Pro
NM_000720.4:c.5243T>C MANE Plus Clinical	NP_000711.1:p.Leu1748Pro
NM_001128839.3:c.5138T>C	NP_001122311.1:p.Leu1713Pro