Canonical Allele Identifier: CA353250777

Gene: CACNA1D

Linked Data

• dbSNP Id: rs1210927253
• gnomAD v3: 3-53801264-A-T
• gnomAD v4: 3-53801264-A-T
• MyVariant Identifiers: chr3:g.53835291A>T (hg19) ; chr3:g.53801264A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53801264A>T , CM000665.2:g.53801264A>T	GRCh38
NC_000003.11:g.53835291A>T , CM000665.1:g.53835291A>T	GRCh37
NC_000003.10:g.53810331A>T	NCBI36
NG_032999.1:g.311216A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.5307A>T	ENSP00000418014.2:p.Gln1769His
ENST00000636633.2:n.2246A>T
ENST00000636999.2:n.682A>T
ENST00000288139.11:c.5307A>T MANE Plus Clinical	ENSP00000288139.3:p.Gln1769His
ENST00000350061.11:c.5247A>T MANE Select	ENSP00000288133.5:p.Gln1749His
ENST00000422281.7:c.5202A>T	ENSP00000409174.2:p.Gln1734His
ENST00000636448.1:c.1368A>T
ENST00000636570.1:c.5202A>T	ENSP00000490183.1:p.Gln1734His
ENST00000636629.1:n.603A>T
ENST00000636633.1:n.2246A>T
ENST00000636999.1:n.674A>T
ENST00000637424.1:c.5274A>T	ENSP00000489769.1:p.Gln1758His
ENST00000637844.1:n.1A>T
ENST00000288139.8:c.5307A>T	ENSP00000288139.3:p.Gln1769His
ENST00000350061.9:c.5247A>T	ENSP00000288133.5:p.Gln1749His
ENST00000422281.6:c.5202A>T	ENSP00000409174.2:p.Gln1734His
ENST00000481478.1:c.4326A>T	ENSP00000418014.1:p.Gln1442His
NM_000720.3:c.5307A>T	NP_000711.1:p.Gln1769His
NM_001128839.2:c.5202A>T	NP_001122311.1:p.Gln1734His
NM_001128840.2:c.5247A>T	NP_001122312.1:p.Gln1749His
XM_005265448.2:c.5202A>T	XP_005265505.1:p.Gln1734His
XM_011534094.1:c.5502A>T	XP_011532396.1:p.Gln1834His
XM_011534095.1:c.5391A>T	XP_011532397.1:p.Gln1797His
XM_011534096.1:c.5313A>T	XP_011532398.1:p.Gln1771His
XM_011534097.1:c.4965A>T	XP_011532399.1:p.Gln1655His
XM_011534098.1:c.4965A>T	XP_011532400.1:p.Gln1655His
XM_011534099.1:c.4590A>T	XP_011532401.1:p.Gln1530His
XM_011534100.1:c.5397A>T	XP_011532402.1:p.Gln1799His
XM_005265448.3:c.5202A>T	XP_005265505.1:p.Gln1734His
XM_011534094.2:c.5502A>T	XP_011532396.1:p.Gln1834His
XM_011534096.2:c.5313A>T	XP_011532398.1:p.Gln1771His
XM_011534097.2:c.4965A>T	XP_011532399.1:p.Gln1655His
XM_011534099.2:c.4590A>T	XP_011532401.1:p.Gln1530His
XM_011534100.2:c.5397A>T	XP_011532402.1:p.Gln1799His
XM_017007137.1:c.5502A>T	XP_016862626.1:p.Gln1834His
XM_017007138.1:c.5499A>T	XP_016862627.1:p.Gln1833His
XM_017007139.1:c.5502A>T	XP_016862628.1:p.Gln1834His
XM_017007140.1:c.5442A>T	XP_016862629.1:p.Gln1814His
XM_017007141.1:c.5442A>T	XP_016862630.1:p.Gln1814His
XM_017007142.1:c.5418A>T	XP_016862631.1:p.Gln1806His
XM_017007143.1:c.5418A>T	XP_016862632.1:p.Gln1806His
XM_017007144.1:c.5418A>T	XP_016862633.1:p.Gln1806His
XM_017007145.1:c.5373A>T	XP_016862634.1:p.Gln1791His
NM_001128840.3:c.5247A>T MANE Select	NP_001122312.1:p.Gln1749His
NM_000720.4:c.5307A>T MANE Plus Clinical	NP_000711.1:p.Gln1769His
NM_001128839.3:c.5202A>T	NP_001122311.1:p.Gln1734His