Canonical Allele Identifier: CA341479

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 17622
• ClinVar RCV Id: RCV000724646 ; RCV002222356 ; RCV002490391 ; RCV003473110 ; RCV000019189
• 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

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