Canonical Allele Identifier: CA353251619

Gene: CACNA1D

Linked Data

• ClinVar Variation Id: 2979409
• ClinVar RCV Id: RCV003832039
• dbSNP Id: rs1373089689
• gnomAD v4: 3-53801366-T-A
• MyVariant Identifiers: chr3:g.53835393T>A (hg19) ; chr3:g.53801366T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53801366T>A , CM000665.2:g.53801366T>A	GRCh38
NC_000003.11:g.53835393T>A , CM000665.1:g.53835393T>A	GRCh37
NC_000003.10:g.53810433T>A	NCBI36
NG_032999.1:g.311318T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.5409T>A	ENSP00000418014.2:p.Asn1803Lys
ENST00000636633.2:n.2348T>A
ENST00000636999.2:n.784T>A
ENST00000288139.11:c.5409T>A MANE Plus Clinical	ENSP00000288139.3:p.Asn1803Lys
ENST00000350061.11:c.5349T>A MANE Select	ENSP00000288133.5:p.Asn1783Lys
ENST00000422281.7:c.5304T>A	ENSP00000409174.2:p.Asn1768Lys
ENST00000636448.1:c.1470T>A
ENST00000636570.1:c.5304T>A	ENSP00000490183.1:p.Asn1768Lys
ENST00000636629.1:n.705T>A
ENST00000636633.1:n.2348T>A
ENST00000636999.1:n.776T>A
ENST00000637424.1:c.5376T>A	ENSP00000489769.1:p.Asn1792Lys
ENST00000637844.1:n.103T>A
ENST00000288139.8:c.5409T>A	ENSP00000288139.3:p.Asn1803Lys
ENST00000350061.9:c.5349T>A	ENSP00000288133.5:p.Asn1783Lys
ENST00000422281.6:c.5304T>A	ENSP00000409174.2:p.Asn1768Lys
ENST00000481478.1:c.4428T>A	ENSP00000418014.1:p.Asn1476Lys
NM_000720.3:c.5409T>A	NP_000711.1:p.Asn1803Lys
NM_001128839.2:c.5304T>A	NP_001122311.1:p.Asn1768Lys
NM_001128840.2:c.5349T>A	NP_001122312.1:p.Asn1783Lys
XM_005265448.2:c.5304T>A	XP_005265505.1:p.Asn1768Lys
XM_011534094.1:c.5604T>A	XP_011532396.1:p.Asn1868Lys
XM_011534095.1:c.5493T>A	XP_011532397.1:p.Asn1831Lys
XM_011534096.1:c.5415T>A	XP_011532398.1:p.Asn1805Lys
XM_011534097.1:c.5067T>A	XP_011532399.1:p.Asn1689Lys
XM_011534098.1:c.5067T>A	XP_011532400.1:p.Asn1689Lys
XM_011534099.1:c.4692T>A	XP_011532401.1:p.Asn1564Lys
XM_011534100.1:c.5499T>A	XP_011532402.1:p.Asn1833Lys
XM_005265448.3:c.5304T>A	XP_005265505.1:p.Asn1768Lys
XM_011534094.2:c.5604T>A	XP_011532396.1:p.Asn1868Lys
XM_011534096.2:c.5415T>A	XP_011532398.1:p.Asn1805Lys
XM_011534097.2:c.5067T>A	XP_011532399.1:p.Asn1689Lys
XM_011534099.2:c.4692T>A	XP_011532401.1:p.Asn1564Lys
XM_011534100.2:c.5499T>A	XP_011532402.1:p.Asn1833Lys
XM_017007137.1:c.5604T>A	XP_016862626.1:p.Asn1868Lys
XM_017007138.1:c.5601T>A	XP_016862627.1:p.Asn1867Lys
XM_017007139.1:c.5604T>A	XP_016862628.1:p.Asn1868Lys
XM_017007140.1:c.5544T>A	XP_016862629.1:p.Asn1848Lys
XM_017007141.1:c.5544T>A	XP_016862630.1:p.Asn1848Lys
XM_017007142.1:c.5520T>A	XP_016862631.1:p.Asn1840Lys
XM_017007143.1:c.5520T>A	XP_016862632.1:p.Asn1840Lys
XM_017007144.1:c.5520T>A	XP_016862633.1:p.Asn1840Lys
XM_017007145.1:c.5475T>A	XP_016862634.1:p.Asn1825Lys
NM_001128840.3:c.5349T>A MANE Select	NP_001122312.1:p.Asn1783Lys
NM_000720.4:c.5409T>A MANE Plus Clinical	NP_000711.1:p.Asn1803Lys
NM_001128839.3:c.5304T>A	NP_001122311.1:p.Asn1768Lys