Canonical Allele Identifier: CA433896200

Gene: CACNA1D

Linked Data

• ClinVar Variation Id: 1926146
• ClinVar RCV Id: RCV002605065
• dbSNP Id: rs201306126
• gnomAD v2: 3-53835369-G-C
• gnomAD v4: 3-53801342-G-C
• MyVariant Identifiers: chr3:g.53835369G>C (hg19) ; chr3:g.53801342G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53801342G>C , CM000665.2:g.53801342G>C	GRCh38
NC_000003.11:g.53835369G>C , CM000665.1:g.53835369G>C	GRCh37
NC_000003.10:g.53810409G>C	NCBI36
NG_032999.1:g.311294G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.5385G>C	ENSP00000418014.2:p.Gly1795=
ENST00000636633.2:n.2324G>C
ENST00000636999.2:n.760G>C
ENST00000288139.11:c.5385G>C MANE Plus Clinical	ENSP00000288139.3:p.Gly1795=
ENST00000350061.11:c.5325G>C MANE Select	ENSP00000288133.5:p.Gly1775=
ENST00000422281.7:c.5280G>C	ENSP00000409174.2:p.Gly1760=
ENST00000636448.1:c.1446G>C
ENST00000636570.1:c.5280G>C	ENSP00000490183.1:p.Gly1760=
ENST00000636629.1:n.681G>C
ENST00000636633.1:n.2324G>C
ENST00000636999.1:n.752G>C
ENST00000637424.1:c.5352G>C	ENSP00000489769.1:p.Gly1784=
ENST00000637844.1:n.79G>C
ENST00000288139.8:c.5385G>C	ENSP00000288139.3:p.Gly1795=
ENST00000350061.9:c.5325G>C	ENSP00000288133.5:p.Gly1775=
ENST00000422281.6:c.5280G>C	ENSP00000409174.2:p.Gly1760=
ENST00000481478.1:c.4404G>C	ENSP00000418014.1:p.Gly1468=
NM_000720.3:c.5385G>C	NP_000711.1:p.Gly1795=
NM_001128839.2:c.5280G>C	NP_001122311.1:p.Gly1760=
NM_001128840.2:c.5325G>C	NP_001122312.1:p.Gly1775=
XM_005265448.2:c.5280G>C	XP_005265505.1:p.Gly1760=
XM_011534094.1:c.5580G>C	XP_011532396.1:p.Gly1860=
XM_011534095.1:c.5469G>C	XP_011532397.1:p.Gly1823=
XM_011534096.1:c.5391G>C	XP_011532398.1:p.Gly1797=
XM_011534097.1:c.5043G>C	XP_011532399.1:p.Gly1681=
XM_011534098.1:c.5043G>C	XP_011532400.1:p.Gly1681=
XM_011534099.1:c.4668G>C	XP_011532401.1:p.Gly1556=
XM_011534100.1:c.5475G>C	XP_011532402.1:p.Gly1825=
XM_005265448.3:c.5280G>C	XP_005265505.1:p.Gly1760=
XM_011534094.2:c.5580G>C	XP_011532396.1:p.Gly1860=
XM_011534096.2:c.5391G>C	XP_011532398.1:p.Gly1797=
XM_011534097.2:c.5043G>C	XP_011532399.1:p.Gly1681=
XM_011534099.2:c.4668G>C	XP_011532401.1:p.Gly1556=
XM_011534100.2:c.5475G>C	XP_011532402.1:p.Gly1825=
XM_017007137.1:c.5580G>C	XP_016862626.1:p.Gly1860=
XM_017007138.1:c.5577G>C	XP_016862627.1:p.Gly1859=
XM_017007139.1:c.5580G>C	XP_016862628.1:p.Gly1860=
XM_017007140.1:c.5520G>C	XP_016862629.1:p.Gly1840=
XM_017007141.1:c.5520G>C	XP_016862630.1:p.Gly1840=
XM_017007142.1:c.5496G>C	XP_016862631.1:p.Gly1832=
XM_017007143.1:c.5496G>C	XP_016862632.1:p.Gly1832=
XM_017007144.1:c.5496G>C	XP_016862633.1:p.Gly1832=
XM_017007145.1:c.5451G>C	XP_016862634.1:p.Gly1817=
NM_001128840.3:c.5325G>C MANE Select	NP_001122312.1:p.Gly1775=
NM_000720.4:c.5385G>C MANE Plus Clinical	NP_000711.1:p.Gly1795=
NM_001128839.3:c.5280G>C	NP_001122311.1:p.Gly1760=