Canonical Allele Identifier: CA353250727

Gene: CACNA1D

Linked Data

• ClinVar Variation Id: 2120090
• ClinVar RCV Id: RCV003059207
• MyVariant Identifiers: chr3:g.53835281T>A (hg19) ; chr3:g.53801254T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53801254T>A , CM000665.2:g.53801254T>A	GRCh38
NC_000003.11:g.53835281T>A , CM000665.1:g.53835281T>A	GRCh37
NC_000003.10:g.53810321T>A	NCBI36
NG_032999.1:g.311206T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.5297T>A	ENSP00000418014.2:p.Ile1766Lys
ENST00000636633.2:n.2236T>A
ENST00000636999.2:n.672T>A
ENST00000288139.11:c.5297T>A MANE Plus Clinical	ENSP00000288139.3:p.Ile1766Lys
ENST00000350061.11:c.5237T>A MANE Select	ENSP00000288133.5:p.Ile1746Lys
ENST00000422281.7:c.5192T>A	ENSP00000409174.2:p.Ile1731Lys
ENST00000636448.1:c.1358T>A
ENST00000636570.1:c.5192T>A	ENSP00000490183.1:p.Ile1731Lys
ENST00000636629.1:n.593T>A
ENST00000636633.1:n.2236T>A
ENST00000636999.1:n.664T>A
ENST00000637424.1:c.5264T>A	ENSP00000489769.1:p.Ile1755Lys
ENST00000288139.8:c.5297T>A	ENSP00000288139.3:p.Ile1766Lys
ENST00000350061.9:c.5237T>A	ENSP00000288133.5:p.Ile1746Lys
ENST00000422281.6:c.5192T>A	ENSP00000409174.2:p.Ile1731Lys
ENST00000481478.1:c.4316T>A	ENSP00000418014.1:p.Ile1439Lys
NM_000720.3:c.5297T>A	NP_000711.1:p.Ile1766Lys
NM_001128839.2:c.5192T>A	NP_001122311.1:p.Ile1731Lys
NM_001128840.2:c.5237T>A	NP_001122312.1:p.Ile1746Lys
XM_005265448.2:c.5192T>A	XP_005265505.1:p.Ile1731Lys
XM_011534094.1:c.5492T>A	XP_011532396.1:p.Ile1831Lys
XM_011534095.1:c.5381T>A	XP_011532397.1:p.Ile1794Lys
XM_011534096.1:c.5303T>A	XP_011532398.1:p.Ile1768Lys
XM_011534097.1:c.4955T>A	XP_011532399.1:p.Ile1652Lys
XM_011534098.1:c.4955T>A	XP_011532400.1:p.Ile1652Lys
XM_011534099.1:c.4580T>A	XP_011532401.1:p.Ile1527Lys
XM_011534100.1:c.5387T>A	XP_011532402.1:p.Ile1796Lys
XM_005265448.3:c.5192T>A	XP_005265505.1:p.Ile1731Lys
XM_011534094.2:c.5492T>A	XP_011532396.1:p.Ile1831Lys
XM_011534096.2:c.5303T>A	XP_011532398.1:p.Ile1768Lys
XM_011534097.2:c.4955T>A	XP_011532399.1:p.Ile1652Lys
XM_011534099.2:c.4580T>A	XP_011532401.1:p.Ile1527Lys
XM_011534100.2:c.5387T>A	XP_011532402.1:p.Ile1796Lys
XM_017007137.1:c.5492T>A	XP_016862626.1:p.Ile1831Lys
XM_017007138.1:c.5489T>A	XP_016862627.1:p.Ile1830Lys
XM_017007139.1:c.5492T>A	XP_016862628.1:p.Ile1831Lys
XM_017007140.1:c.5432T>A	XP_016862629.1:p.Ile1811Lys
XM_017007141.1:c.5432T>A	XP_016862630.1:p.Ile1811Lys
XM_017007142.1:c.5408T>A	XP_016862631.1:p.Ile1803Lys
XM_017007143.1:c.5408T>A	XP_016862632.1:p.Ile1803Lys
XM_017007144.1:c.5408T>A	XP_016862633.1:p.Ile1803Lys
XM_017007145.1:c.5363T>A	XP_016862634.1:p.Ile1788Lys
NM_001128840.3:c.5237T>A MANE Select	NP_001122312.1:p.Ile1746Lys
NM_000720.4:c.5297T>A MANE Plus Clinical	NP_000711.1:p.Ile1766Lys
NM_001128839.3:c.5192T>A	NP_001122311.1:p.Ile1731Lys