Canonical Allele Identifier: CA433896171

Gene: CACNA1D

Linked Data

• MyVariant Identifiers: chr3:g.53835318C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53801291C>T , CM000665.2:g.53801291C>T	GRCh38
NC_000003.11:g.53835318C>T , CM000665.1:g.53835318C>T	GRCh37
NC_000003.10:g.53810358C>T	NCBI36
NG_032999.1:g.311243C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.5334C>T	ENSP00000418014.2:p.Leu1778=
ENST00000636633.2:n.2273C>T
ENST00000636999.2:n.709C>T
ENST00000288139.11:c.5334C>T MANE Plus Clinical	ENSP00000288139.3:p.Leu1778=
ENST00000350061.11:c.5274C>T MANE Select	ENSP00000288133.5:p.Leu1758=
ENST00000422281.7:c.5229C>T	ENSP00000409174.2:p.Leu1743=
ENST00000636448.1:c.1395C>T
ENST00000636570.1:c.5229C>T	ENSP00000490183.1:p.Leu1743=
ENST00000636629.1:n.630C>T
ENST00000636633.1:n.2273C>T
ENST00000636999.1:n.701C>T
ENST00000637424.1:c.5301C>T	ENSP00000489769.1:p.Leu1767=
ENST00000637844.1:n.28C>T
ENST00000288139.8:c.5334C>T	ENSP00000288139.3:p.Leu1778=
ENST00000350061.9:c.5274C>T	ENSP00000288133.5:p.Leu1758=
ENST00000422281.6:c.5229C>T	ENSP00000409174.2:p.Leu1743=
ENST00000481478.1:c.4353C>T	ENSP00000418014.1:p.Leu1451=
NM_000720.3:c.5334C>T	NP_000711.1:p.Leu1778=
NM_001128839.2:c.5229C>T	NP_001122311.1:p.Leu1743=
NM_001128840.2:c.5274C>T	NP_001122312.1:p.Leu1758=
XM_005265448.2:c.5229C>T	XP_005265505.1:p.Leu1743=
XM_011534094.1:c.5529C>T	XP_011532396.1:p.Leu1843=
XM_011534095.1:c.5418C>T	XP_011532397.1:p.Leu1806=
XM_011534096.1:c.5340C>T	XP_011532398.1:p.Leu1780=
XM_011534097.1:c.4992C>T	XP_011532399.1:p.Leu1664=
XM_011534098.1:c.4992C>T	XP_011532400.1:p.Leu1664=
XM_011534099.1:c.4617C>T	XP_011532401.1:p.Leu1539=
XM_011534100.1:c.5424C>T	XP_011532402.1:p.Leu1808=
XM_005265448.3:c.5229C>T	XP_005265505.1:p.Leu1743=
XM_011534094.2:c.5529C>T	XP_011532396.1:p.Leu1843=
XM_011534096.2:c.5340C>T	XP_011532398.1:p.Leu1780=
XM_011534097.2:c.4992C>T	XP_011532399.1:p.Leu1664=
XM_011534099.2:c.4617C>T	XP_011532401.1:p.Leu1539=
XM_011534100.2:c.5424C>T	XP_011532402.1:p.Leu1808=
XM_017007137.1:c.5529C>T	XP_016862626.1:p.Leu1843=
XM_017007138.1:c.5526C>T	XP_016862627.1:p.Leu1842=
XM_017007139.1:c.5529C>T	XP_016862628.1:p.Leu1843=
XM_017007140.1:c.5469C>T	XP_016862629.1:p.Leu1823=
XM_017007141.1:c.5469C>T	XP_016862630.1:p.Leu1823=
XM_017007142.1:c.5445C>T	XP_016862631.1:p.Leu1815=
XM_017007143.1:c.5445C>T	XP_016862632.1:p.Leu1815=
XM_017007144.1:c.5445C>T	XP_016862633.1:p.Leu1815=
XM_017007145.1:c.5400C>T	XP_016862634.1:p.Leu1800=
NM_001128840.3:c.5274C>T MANE Select	NP_001122312.1:p.Leu1758=
NM_000720.4:c.5334C>T MANE Plus Clinical	NP_000711.1:p.Leu1778=
NM_001128839.3:c.5229C>T	NP_001122311.1:p.Leu1743=