Canonical Allele Identifier: CA347493

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 217151
• ClinVar RCV Id: RCV000201045 ; RCV001781586 ; RCV001814106 ; RCV003330572 ; RCV003474971
• dbSNP Id: rs863224958
• gnomAD v4: 15-42359951-G-A
• COSMIC: COSM4054691 ; COSM4054692 ; COSM5054288
• MyVariant Identifiers: chr15:g.42652149G>A (hg19) ; chr15:g.42359951G>A (hg38)
• PubMed: PMID:14981715 ; PMID:16100770 ; PMID:16141003 ; PMID:16411092 ; PMID:16650086 ; PMID:17318636

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42359951G>A , CM000677.2:g.42359951G>A	GRCh38
NC_000015.9:g.42652149G>A , CM000677.1:g.42652149G>A	GRCh37
NC_000015.8:g.40439441G>A	NCBI36
NG_008660.1:g.16849G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.146G>A	ENSP00000183936.4:p.Arg49His
ENST00000357568.8:c.146G>A	ENSP00000350181.3:p.Arg49His
ENST00000397163.8:c.146G>A MANE Select	ENSP00000380349.3:p.Arg49His
ENST00000466369.5:n.540+5498G>A
ENST00000483208.5:n.540+5498G>A
ENST00000495723.1:n.540+5498G>A
ENST00000549793.5:n.540+5498G>A
ENST00000318023.11:c.146G>A	ENSP00000326281.8:p.Arg49His
ENST00000349748.7:c.146G>A	ENSP00000183936.4:p.Arg49His
ENST00000357568.7:c.146G>A	ENSP00000350181.3:p.Arg49His
ENST00000397163.7:c.146G>A	ENSP00000380349.3:p.Arg49His
NM_000070.2:c.146G>A	NP_000061.1:p.Arg49His
NM_024344.1:c.146G>A	NP_077320.1:p.Arg49His
NM_173087.1:c.146G>A	NP_775110.1:p.Arg49His
NM_000070.3:c.146G>A MANE Select	NP_000061.1:p.Arg49His
NM_024344.2:c.146G>A	NP_077320.1:p.Arg49His
NM_173087.2:c.146G>A	NP_775110.1:p.Arg49His