Canonical Allele Identifier: CA353250534

Gene: CACNA1D

Linked Data

• MyVariant Identifiers: chr3:g.53835245A>G (hg19) ; chr3:g.53801218A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53801218A>G , CM000665.2:g.53801218A>G	GRCh38
NC_000003.11:g.53835245A>G , CM000665.1:g.53835245A>G	GRCh37
NC_000003.10:g.53810285A>G	NCBI36
NG_032999.1:g.311170A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.5261A>G	ENSP00000418014.2:p.Asn1754Ser
ENST00000636633.2:n.2200A>G
ENST00000636999.2:n.636A>G
ENST00000288139.11:c.5261A>G MANE Plus Clinical	ENSP00000288139.3:p.Asn1754Ser
ENST00000350061.11:c.5201A>G MANE Select	ENSP00000288133.5:p.Asn1734Ser
ENST00000422281.7:c.5156A>G	ENSP00000409174.2:p.Asn1719Ser
ENST00000636448.1:c.1322A>G
ENST00000636570.1:c.5156A>G	ENSP00000490183.1:p.Asn1719Ser
ENST00000636629.1:n.557A>G
ENST00000636633.1:n.2200A>G
ENST00000636999.1:n.628A>G
ENST00000637424.1:c.5228A>G	ENSP00000489769.1:p.Asn1743Ser
ENST00000288139.8:c.5261A>G	ENSP00000288139.3:p.Asn1754Ser
ENST00000350061.9:c.5201A>G	ENSP00000288133.5:p.Asn1734Ser
ENST00000422281.6:c.5156A>G	ENSP00000409174.2:p.Asn1719Ser
ENST00000481478.1:c.4280A>G	ENSP00000418014.1:p.Asn1427Ser
NM_000720.3:c.5261A>G	NP_000711.1:p.Asn1754Ser
NM_001128839.2:c.5156A>G	NP_001122311.1:p.Asn1719Ser
NM_001128840.2:c.5201A>G	NP_001122312.1:p.Asn1734Ser
XM_005265448.2:c.5156A>G	XP_005265505.1:p.Asn1719Ser
XM_011534094.1:c.5456A>G	XP_011532396.1:p.Asn1819Ser
XM_011534095.1:c.5345A>G	XP_011532397.1:p.Asn1782Ser
XM_011534096.1:c.5267A>G	XP_011532398.1:p.Asn1756Ser
XM_011534097.1:c.4919A>G	XP_011532399.1:p.Asn1640Ser
XM_011534098.1:c.4919A>G	XP_011532400.1:p.Asn1640Ser
XM_011534099.1:c.4544A>G	XP_011532401.1:p.Asn1515Ser
XM_011534100.1:c.5351A>G	XP_011532402.1:p.Asn1784Ser
XM_005265448.3:c.5156A>G	XP_005265505.1:p.Asn1719Ser
XM_011534094.2:c.5456A>G	XP_011532396.1:p.Asn1819Ser
XM_011534096.2:c.5267A>G	XP_011532398.1:p.Asn1756Ser
XM_011534097.2:c.4919A>G	XP_011532399.1:p.Asn1640Ser
XM_011534099.2:c.4544A>G	XP_011532401.1:p.Asn1515Ser
XM_011534100.2:c.5351A>G	XP_011532402.1:p.Asn1784Ser
XM_017007137.1:c.5456A>G	XP_016862626.1:p.Asn1819Ser
XM_017007138.1:c.5453A>G	XP_016862627.1:p.Asn1818Ser
XM_017007139.1:c.5456A>G	XP_016862628.1:p.Asn1819Ser
XM_017007140.1:c.5396A>G	XP_016862629.1:p.Asn1799Ser
XM_017007141.1:c.5396A>G	XP_016862630.1:p.Asn1799Ser
XM_017007142.1:c.5372A>G	XP_016862631.1:p.Asn1791Ser
XM_017007143.1:c.5372A>G	XP_016862632.1:p.Asn1791Ser
XM_017007144.1:c.5372A>G	XP_016862633.1:p.Asn1791Ser
XM_017007145.1:c.5327A>G	XP_016862634.1:p.Asn1776Ser
NM_001128840.3:c.5201A>G MANE Select	NP_001122312.1:p.Asn1734Ser
NM_000720.4:c.5261A>G MANE Plus Clinical	NP_000711.1:p.Asn1754Ser
NM_001128839.3:c.5156A>G	NP_001122311.1:p.Asn1719Ser