Canonical Allele Identifier: CA2455089

Gene: CACNA1D

Linked Data

• ClinVar Variation Id: 2720643
• ClinVar RCV Id: RCV003554142
• dbSNP Id: rs530789782
• ExAC: 3:53835280 A / G
• gnomAD v2: 3-53835280-A-G
• gnomAD v3: 3-53801253-A-G
• gnomAD v4: 3-53801253-A-G
• MyVariant Identifiers: chr3:g.53835280A>G (hg19) ; chr3:g.53801253A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53801253A>G , CM000665.2:g.53801253A>G	GRCh38
NC_000003.11:g.53835280A>G , CM000665.1:g.53835280A>G	GRCh37
NC_000003.10:g.53810320A>G	NCBI36
NG_032999.1:g.311205A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.5296A>G	ENSP00000418014.2:p.Ile1766Val
ENST00000636633.2:n.2235A>G
ENST00000636999.2:n.671A>G
ENST00000288139.11:c.5296A>G MANE Plus Clinical	ENSP00000288139.3:p.Ile1766Val
ENST00000350061.11:c.5236A>G MANE Select	ENSP00000288133.5:p.Ile1746Val
ENST00000422281.7:c.5191A>G	ENSP00000409174.2:p.Ile1731Val
ENST00000636448.1:c.1357A>G
ENST00000636570.1:c.5191A>G	ENSP00000490183.1:p.Ile1731Val
ENST00000636629.1:n.592A>G
ENST00000636633.1:n.2235A>G
ENST00000636999.1:n.663A>G
ENST00000637424.1:c.5263A>G	ENSP00000489769.1:p.Ile1755Val
ENST00000288139.8:c.5296A>G	ENSP00000288139.3:p.Ile1766Val
ENST00000350061.9:c.5236A>G	ENSP00000288133.5:p.Ile1746Val
ENST00000422281.6:c.5191A>G	ENSP00000409174.2:p.Ile1731Val
ENST00000481478.1:c.4315A>G	ENSP00000418014.1:p.Ile1439Val
NM_000720.3:c.5296A>G	NP_000711.1:p.Ile1766Val
NM_001128839.2:c.5191A>G	NP_001122311.1:p.Ile1731Val
NM_001128840.2:c.5236A>G	NP_001122312.1:p.Ile1746Val
XM_005265448.2:c.5191A>G	XP_005265505.1:p.Ile1731Val
XM_011534094.1:c.5491A>G	XP_011532396.1:p.Ile1831Val
XM_011534095.1:c.5380A>G	XP_011532397.1:p.Ile1794Val
XM_011534096.1:c.5302A>G	XP_011532398.1:p.Ile1768Val
XM_011534097.1:c.4954A>G	XP_011532399.1:p.Ile1652Val
XM_011534098.1:c.4954A>G	XP_011532400.1:p.Ile1652Val
XM_011534099.1:c.4579A>G	XP_011532401.1:p.Ile1527Val
XM_011534100.1:c.5386A>G	XP_011532402.1:p.Ile1796Val
XM_005265448.3:c.5191A>G	XP_005265505.1:p.Ile1731Val
XM_011534094.2:c.5491A>G	XP_011532396.1:p.Ile1831Val
XM_011534096.2:c.5302A>G	XP_011532398.1:p.Ile1768Val
XM_011534097.2:c.4954A>G	XP_011532399.1:p.Ile1652Val
XM_011534099.2:c.4579A>G	XP_011532401.1:p.Ile1527Val
XM_011534100.2:c.5386A>G	XP_011532402.1:p.Ile1796Val
XM_017007137.1:c.5491A>G	XP_016862626.1:p.Ile1831Val
XM_017007138.1:c.5488A>G	XP_016862627.1:p.Ile1830Val
XM_017007139.1:c.5491A>G	XP_016862628.1:p.Ile1831Val
XM_017007140.1:c.5431A>G	XP_016862629.1:p.Ile1811Val
XM_017007141.1:c.5431A>G	XP_016862630.1:p.Ile1811Val
XM_017007142.1:c.5407A>G	XP_016862631.1:p.Ile1803Val
XM_017007143.1:c.5407A>G	XP_016862632.1:p.Ile1803Val
XM_017007144.1:c.5407A>G	XP_016862633.1:p.Ile1803Val
XM_017007145.1:c.5362A>G	XP_016862634.1:p.Ile1788Val
NM_001128840.3:c.5236A>G MANE Select	NP_001122312.1:p.Ile1746Val
NM_000720.4:c.5296A>G MANE Plus Clinical	NP_000711.1:p.Ile1766Val
NM_001128839.3:c.5191A>G	NP_001122311.1:p.Ile1731Val