Canonical Allele Identifier: CA2455084

Gene: CACNA1D

Linked Data

• ClinVar Variation Id: 667201
• ClinVar RCV Id: RCV000825876 ; RCV001858405 ; RCV004029191
• dbSNP Id: rs759409255
• ExAC: 3:53835209 G / C
• gnomAD v2: 3-53835209-G-C
• gnomAD v3: 3-53801182-G-C
• gnomAD v4: 3-53801182-G-C
• MyVariant Identifiers: chr3:g.53835209G>C (hg19) ; chr3:g.53801182G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53801182G>C , CM000665.2:g.53801182G>C	GRCh38
NC_000003.11:g.53835209G>C , CM000665.1:g.53835209G>C	GRCh37
NC_000003.10:g.53810249G>C	NCBI36
NG_032999.1:g.311134G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.5225G>C	ENSP00000418014.2:p.Ser1742Thr
ENST00000636633.2:n.2194-30G>C
ENST00000636999.2:n.600G>C
ENST00000288139.11:c.5225G>C MANE Plus Clinical	ENSP00000288139.3:p.Ser1742Thr
ENST00000350061.11:c.5165G>C MANE Select	ENSP00000288133.5:p.Ser1722Thr
ENST00000422281.7:c.5120G>C	ENSP00000409174.2:p.Ser1707Thr
ENST00000636448.1:c.1316-30G>C
ENST00000636570.1:c.5120G>C	ENSP00000490183.1:p.Ser1707Thr
ENST00000636629.1:n.521G>C
ENST00000636633.1:n.2194-30G>C
ENST00000636999.1:n.592G>C
ENST00000637424.1:c.5192G>C	ENSP00000489769.1:p.Ser1731Thr
ENST00000288139.8:c.5225G>C	ENSP00000288139.3:p.Ser1742Thr
ENST00000350061.9:c.5165G>C	ENSP00000288133.5:p.Ser1722Thr
ENST00000422281.6:c.5120G>C	ENSP00000409174.2:p.Ser1707Thr
ENST00000481478.1:c.4244G>C	ENSP00000418014.1:p.Ser1415Thr
NM_000720.3:c.5225G>C	NP_000711.1:p.Ser1742Thr
NM_001128839.2:c.5120G>C	NP_001122311.1:p.Ser1707Thr
NM_001128840.2:c.5165G>C	NP_001122312.1:p.Ser1722Thr
XM_005265448.2:c.5120G>C	XP_005265505.1:p.Ser1707Thr
XM_011534094.1:c.5420G>C	XP_011532396.1:p.Ser1807Thr
XM_011534095.1:c.5309G>C	XP_011532397.1:p.Ser1770Thr
XM_011534096.1:c.5231G>C	XP_011532398.1:p.Ser1744Thr
XM_011534097.1:c.4883G>C	XP_011532399.1:p.Ser1628Thr
XM_011534098.1:c.4883G>C	XP_011532400.1:p.Ser1628Thr
XM_011534099.1:c.4508G>C	XP_011532401.1:p.Ser1503Thr
XM_011534100.1:c.5315G>C	XP_011532402.1:p.Ser1772Thr
XM_005265448.3:c.5120G>C	XP_005265505.1:p.Ser1707Thr
XM_011534094.2:c.5420G>C	XP_011532396.1:p.Ser1807Thr
XM_011534096.2:c.5231G>C	XP_011532398.1:p.Ser1744Thr
XM_011534097.2:c.4883G>C	XP_011532399.1:p.Ser1628Thr
XM_011534099.2:c.4508G>C	XP_011532401.1:p.Ser1503Thr
XM_011534100.2:c.5315G>C	XP_011532402.1:p.Ser1772Thr
XM_017007137.1:c.5420G>C	XP_016862626.1:p.Ser1807Thr
XM_017007138.1:c.5417G>C	XP_016862627.1:p.Ser1806Thr
XM_017007139.1:c.5420G>C	XP_016862628.1:p.Ser1807Thr
XM_017007140.1:c.5360G>C	XP_016862629.1:p.Ser1787Thr
XM_017007141.1:c.5360G>C	XP_016862630.1:p.Ser1787Thr
XM_017007142.1:c.5336G>C	XP_016862631.1:p.Ser1779Thr
XM_017007143.1:c.5336G>C	XP_016862632.1:p.Ser1779Thr
XM_017007144.1:c.5336G>C	XP_016862633.1:p.Ser1779Thr
XM_017007145.1:c.5291G>C	XP_016862634.1:p.Ser1764Thr
NM_001128840.3:c.5165G>C MANE Select	NP_001122312.1:p.Ser1722Thr
NM_000720.4:c.5225G>C MANE Plus Clinical	NP_000711.1:p.Ser1742Thr
NM_001128839.3:c.5120G>C	NP_001122311.1:p.Ser1707Thr