Canonical Allele Identifier: CA341479
Gene: CAPN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 17622
ClinVar RCV Id: RCV000019189 RCV000724646 RCV002222356 RCV002490391 RCV003473110
dbSNP Id: rs121434548
ExAC: 15:42693953 G / A
gnomAD v2: 15-42693953-G-A
gnomAD v3: 15-42401755-G-A
gnomAD v4: 15-42401755-G-A
MyVariant Identifiers: chr15:g.42693953G>A (hg19) chr15:g.42401755G>A (hg38)
PubMed: PMID:9266733 PMID:14578192 PMID:15725583 PMID:16411092 PMID:16971480 PMID:18854869 PMID:21984748 PMID:22378277
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42401755G>A , CM000677.2:g.42401755G>A GRCh38
NC_000015.9:g.42693953G>A , CM000677.1:g.42693953G>A GRCh37
NC_000015.8:g.40481245G>A NCBI36
NG_008660.1:g.58653G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000349748.8:c.1325G>A ENSP00000183936.4:p.Arg442Gln
ENST00000357568.8:c.1469G>A ENSP00000350181.3:p.Arg490Gln
ENST00000397163.8:c.1469G>A MANE Select ENSP00000380349.3:p.Arg490Gln
ENST00000466369.5:n.1978G>A
ENST00000483208.5:n.1700G>A
ENST00000495723.1:n.1700G>A
ENST00000549793.5:n.1700G>A
ENST00000638141.2:n.1340G>A
ENST00000673705.1:c.309+2103G>A ENSP00000501021.1:n.309+2103G>A
ENST00000318023.11:c.1325G>A ENSP00000326281.8:p.Arg442Gln
ENST00000349748.7:c.1325G>A ENSP00000183936.4:p.Arg442Gln
ENST00000357568.7:c.1469G>A ENSP00000350181.3:p.Arg490Gln
ENST00000397163.7:c.1469G>A ENSP00000380349.3:p.Arg490Gln
NM_000070.2:c.1469G>A NP_000061.1:p.Arg490Gln
NM_024344.1:c.1469G>A NP_077320.1:p.Arg490Gln
NM_173087.1:c.1325G>A NP_775110.1:p.Arg442Gln
NM_000070.3:c.1469G>A MANE Select NP_000061.1:p.Arg490Gln
NM_024344.2:c.1469G>A NP_077320.1:p.Arg490Gln
NM_173087.2:c.1325G>A NP_775110.1:p.Arg442Gln
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