Canonical Allele Identifier: CA353250161

Gene: CACNA1D

Linked Data

• gnomAD v4: 3-53801169-A-T
• MyVariant Identifiers: chr3:g.53835196A>T (hg19) ; chr3:g.53801169A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53801169A>T , CM000665.2:g.53801169A>T	GRCh38
NC_000003.11:g.53835196A>T , CM000665.1:g.53835196A>T	GRCh37
NC_000003.10:g.53810236A>T	NCBI36
NG_032999.1:g.311121A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.5212A>T	ENSP00000418014.2:p.Ile1738Phe
ENST00000636633.2:n.2194-43A>T
ENST00000636999.2:n.587A>T
ENST00000288139.11:c.5212A>T MANE Plus Clinical	ENSP00000288139.3:p.Ile1738Phe
ENST00000350061.11:c.5152A>T MANE Select	ENSP00000288133.5:p.Ile1718Phe
ENST00000422281.7:c.5107A>T	ENSP00000409174.2:p.Ile1703Phe
ENST00000636448.1:c.1316-43A>T
ENST00000636570.1:c.5107A>T	ENSP00000490183.1:p.Ile1703Phe
ENST00000636629.1:n.508A>T
ENST00000636633.1:n.2194-43A>T
ENST00000636999.1:n.579A>T
ENST00000637424.1:c.5179A>T	ENSP00000489769.1:p.Ile1727Phe
ENST00000288139.8:c.5212A>T	ENSP00000288139.3:p.Ile1738Phe
ENST00000350061.9:c.5152A>T	ENSP00000288133.5:p.Ile1718Phe
ENST00000422281.6:c.5107A>T	ENSP00000409174.2:p.Ile1703Phe
ENST00000481478.1:c.4231A>T	ENSP00000418014.1:p.Ile1411Phe
NM_000720.3:c.5212A>T	NP_000711.1:p.Ile1738Phe
NM_001128839.2:c.5107A>T	NP_001122311.1:p.Ile1703Phe
NM_001128840.2:c.5152A>T	NP_001122312.1:p.Ile1718Phe
XM_005265448.2:c.5107A>T	XP_005265505.1:p.Ile1703Phe
XM_011534094.1:c.5407A>T	XP_011532396.1:p.Ile1803Phe
XM_011534095.1:c.5296A>T	XP_011532397.1:p.Ile1766Phe
XM_011534096.1:c.5218A>T	XP_011532398.1:p.Ile1740Phe
XM_011534097.1:c.4870A>T	XP_011532399.1:p.Ile1624Phe
XM_011534098.1:c.4870A>T	XP_011532400.1:p.Ile1624Phe
XM_011534099.1:c.4495A>T	XP_011532401.1:p.Ile1499Phe
XM_011534100.1:c.5302A>T	XP_011532402.1:p.Ile1768Phe
XM_005265448.3:c.5107A>T	XP_005265505.1:p.Ile1703Phe
XM_011534094.2:c.5407A>T	XP_011532396.1:p.Ile1803Phe
XM_011534096.2:c.5218A>T	XP_011532398.1:p.Ile1740Phe
XM_011534097.2:c.4870A>T	XP_011532399.1:p.Ile1624Phe
XM_011534099.2:c.4495A>T	XP_011532401.1:p.Ile1499Phe
XM_011534100.2:c.5302A>T	XP_011532402.1:p.Ile1768Phe
XM_017007137.1:c.5407A>T	XP_016862626.1:p.Ile1803Phe
XM_017007138.1:c.5404A>T	XP_016862627.1:p.Ile1802Phe
XM_017007139.1:c.5407A>T	XP_016862628.1:p.Ile1803Phe
XM_017007140.1:c.5347A>T	XP_016862629.1:p.Ile1783Phe
XM_017007141.1:c.5347A>T	XP_016862630.1:p.Ile1783Phe
XM_017007142.1:c.5323A>T	XP_016862631.1:p.Ile1775Phe
XM_017007143.1:c.5323A>T	XP_016862632.1:p.Ile1775Phe
XM_017007144.1:c.5323A>T	XP_016862633.1:p.Ile1775Phe
XM_017007145.1:c.5278A>T	XP_016862634.1:p.Ile1760Phe
NM_001128840.3:c.5152A>T MANE Select	NP_001122312.1:p.Ile1718Phe
NM_000720.4:c.5212A>T MANE Plus Clinical	NP_000711.1:p.Ile1738Phe
NM_001128839.3:c.5107A>T	NP_001122311.1:p.Ile1703Phe