Canonical Allele Identifier: CA353259544

Gene: CACNA1D

Linked Data

• MyVariant Identifiers: chr3:g.53845353G>T (hg19) ; chr3:g.53811326G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53811326G>T , CM000665.2:g.53811326G>T	GRCh38
NC_000003.11:g.53845353G>T , CM000665.1:g.53845353G>T	GRCh37
NC_000003.10:g.53820393G>T	NCBI36
NG_032999.1:g.321278G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.6466G>T	ENSP00000418014.2:p.Gly2156Cys
ENST00000636581.2:n.1795G>T
ENST00000636633.2:n.3405G>T
ENST00000636999.2:n.1841G>T
ENST00000288139.11:c.6466G>T MANE Plus Clinical	ENSP00000288139.3:p.Gly2156Cys
ENST00000350061.11:c.6406G>T MANE Select	ENSP00000288133.5:p.Gly2136Cys
ENST00000422281.7:c.6334G>T	ENSP00000409174.2:p.Gly2112Cys
ENST00000636448.1:c.2527G>T
ENST00000636570.1:c.6361G>T	ENSP00000490183.1:p.Gly2121Cys
ENST00000636581.1:n.1795G>T
ENST00000636633.1:n.3405G>T
ENST00000636999.1:n.1833G>T
ENST00000637424.1:c.6433G>T	ENSP00000489769.1:p.Gly2145Cys
ENST00000288139.8:c.6466G>T	ENSP00000288139.3:p.Gly2156Cys
ENST00000350061.9:c.6406G>T	ENSP00000288133.5:p.Gly2136Cys
ENST00000422281.6:c.6334G>T	ENSP00000409174.2:p.Gly2112Cys
ENST00000481478.1:c.5485G>T	ENSP00000418014.1:p.Gly1829Cys
NM_000720.3:c.6466G>T	NP_000711.1:p.Gly2156Cys
NM_001128839.2:c.6334G>T	NP_001122311.1:p.Gly2112Cys
NM_001128840.2:c.6406G>T	NP_001122312.1:p.Gly2136Cys
XM_005265448.2:c.6361G>T	XP_005265505.1:p.Gly2121Cys
XM_011534094.1:c.6661G>T	XP_011532396.1:p.Gly2221Cys
XM_011534095.1:c.6550G>T	XP_011532397.1:p.Gly2184Cys
XM_011534096.1:c.6472G>T	XP_011532398.1:p.Gly2158Cys
XM_011534097.1:c.6124G>T	XP_011532399.1:p.Gly2042Cys
XM_011534098.1:c.6124G>T	XP_011532400.1:p.Gly2042Cys
XM_011534099.1:c.5749G>T	XP_011532401.1:p.Gly1917Cys
XM_011534100.1:c.6556G>T	XP_011532402.1:p.Gly2186Cys
XM_005265448.3:c.6361G>T	XP_005265505.1:p.Gly2121Cys
XM_011534094.2:c.6661G>T	XP_011532396.1:p.Gly2221Cys
XM_011534096.2:c.6472G>T	XP_011532398.1:p.Gly2158Cys
XM_011534097.2:c.6124G>T	XP_011532399.1:p.Gly2042Cys
XM_011534099.2:c.5749G>T	XP_011532401.1:p.Gly1917Cys
XM_011534100.2:c.6556G>T	XP_011532402.1:p.Gly2186Cys
XM_017007137.1:c.6661G>T	XP_016862626.1:p.Gly2221Cys
XM_017007138.1:c.6658G>T	XP_016862627.1:p.Gly2220Cys
XM_017007139.1:c.6634G>T	XP_016862628.1:p.Gly2212Cys
XM_017007140.1:c.6601G>T	XP_016862629.1:p.Gly2201Cys
XM_017007141.1:c.6601G>T	XP_016862630.1:p.Gly2201Cys
XM_017007142.1:c.6577G>T	XP_016862631.1:p.Gly2193Cys
XM_017007143.1:c.6577G>T	XP_016862632.1:p.Gly2193Cys
XM_017007144.1:c.6577G>T	XP_016862633.1:p.Gly2193Cys
XM_017007145.1:c.6532G>T	XP_016862634.1:p.Gly2178Cys
NM_001128840.3:c.6406G>T MANE Select	NP_001122312.1:p.Gly2136Cys
NM_000720.4:c.6466G>T MANE Plus Clinical	NP_000711.1:p.Gly2156Cys
NM_001128839.3:c.6334G>T	NP_001122311.1:p.Gly2112Cys