Canonical Allele Identifier: CA353250111

Gene: CACNA1D

Linked Data

• ClinVar Variation Id: 2068959
• ClinVar RCV Id: RCV002954427
• gnomAD v4: 3-53801163-C-T
• MyVariant Identifiers: chr3:g.53835190C>T (hg19) ; chr3:g.53801163C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53801163C>T , CM000665.2:g.53801163C>T	GRCh38
NC_000003.11:g.53835190C>T , CM000665.1:g.53835190C>T	GRCh37
NC_000003.10:g.53810230C>T	NCBI36
NG_032999.1:g.311115C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.5206C>T	ENSP00000418014.2:p.Pro1736Ser
ENST00000636633.2:n.2194-49C>T
ENST00000636999.2:n.581C>T
ENST00000288139.11:c.5206C>T MANE Plus Clinical	ENSP00000288139.3:p.Pro1736Ser
ENST00000350061.11:c.5146C>T MANE Select	ENSP00000288133.5:p.Pro1716Ser
ENST00000422281.7:c.5101C>T	ENSP00000409174.2:p.Pro1701Ser
ENST00000636448.1:c.1316-49C>T
ENST00000636570.1:c.5101C>T	ENSP00000490183.1:p.Pro1701Ser
ENST00000636629.1:n.502C>T
ENST00000636633.1:n.2194-49C>T
ENST00000636999.1:n.573C>T
ENST00000637424.1:c.5173C>T	ENSP00000489769.1:p.Pro1725Ser
ENST00000288139.8:c.5206C>T	ENSP00000288139.3:p.Pro1736Ser
ENST00000350061.9:c.5146C>T	ENSP00000288133.5:p.Pro1716Ser
ENST00000422281.6:c.5101C>T	ENSP00000409174.2:p.Pro1701Ser
ENST00000481478.1:c.4225C>T	ENSP00000418014.1:p.Pro1409Ser
NM_000720.3:c.5206C>T	NP_000711.1:p.Pro1736Ser
NM_001128839.2:c.5101C>T	NP_001122311.1:p.Pro1701Ser
NM_001128840.2:c.5146C>T	NP_001122312.1:p.Pro1716Ser
XM_005265448.2:c.5101C>T	XP_005265505.1:p.Pro1701Ser
XM_011534094.1:c.5401C>T	XP_011532396.1:p.Pro1801Ser
XM_011534095.1:c.5290C>T	XP_011532397.1:p.Pro1764Ser
XM_011534096.1:c.5212C>T	XP_011532398.1:p.Pro1738Ser
XM_011534097.1:c.4864C>T	XP_011532399.1:p.Pro1622Ser
XM_011534098.1:c.4864C>T	XP_011532400.1:p.Pro1622Ser
XM_011534099.1:c.4489C>T	XP_011532401.1:p.Pro1497Ser
XM_011534100.1:c.5296C>T	XP_011532402.1:p.Pro1766Ser
XM_005265448.3:c.5101C>T	XP_005265505.1:p.Pro1701Ser
XM_011534094.2:c.5401C>T	XP_011532396.1:p.Pro1801Ser
XM_011534096.2:c.5212C>T	XP_011532398.1:p.Pro1738Ser
XM_011534097.2:c.4864C>T	XP_011532399.1:p.Pro1622Ser
XM_011534099.2:c.4489C>T	XP_011532401.1:p.Pro1497Ser
XM_011534100.2:c.5296C>T	XP_011532402.1:p.Pro1766Ser
XM_017007137.1:c.5401C>T	XP_016862626.1:p.Pro1801Ser
XM_017007138.1:c.5398C>T	XP_016862627.1:p.Pro1800Ser
XM_017007139.1:c.5401C>T	XP_016862628.1:p.Pro1801Ser
XM_017007140.1:c.5341C>T	XP_016862629.1:p.Pro1781Ser
XM_017007141.1:c.5341C>T	XP_016862630.1:p.Pro1781Ser
XM_017007142.1:c.5317C>T	XP_016862631.1:p.Pro1773Ser
XM_017007143.1:c.5317C>T	XP_016862632.1:p.Pro1773Ser
XM_017007144.1:c.5317C>T	XP_016862633.1:p.Pro1773Ser
XM_017007145.1:c.5272C>T	XP_016862634.1:p.Pro1758Ser
NM_001128840.3:c.5146C>T MANE Select	NP_001122312.1:p.Pro1716Ser
NM_000720.4:c.5206C>T MANE Plus Clinical	NP_000711.1:p.Pro1736Ser
NM_001128839.3:c.5101C>T	NP_001122311.1:p.Pro1701Ser