Canonical Allele Identifier: CA391999721

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 501440
• ClinVar RCV Id: RCV000592929 ; RCV000727349 ; RCV003235305 ; RCV003471960
• dbSNP Id: rs1274808359
• gnomAD v2: 15-42693865-C-T
• gnomAD v3: 15-42401667-C-T
• gnomAD v4: 15-42401667-C-T
• COSMIC: COSM700579 ; COSM1147517 ; COSM1646686
• MyVariant Identifiers: chr15:g.42693865C>T (hg19) ; chr15:g.42401667C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42401667C>T , CM000677.2:g.42401667C>T	GRCh38
NC_000015.9:g.42693865C>T , CM000677.1:g.42693865C>T	GRCh37
NC_000015.8:g.40481157C>T	NCBI36
NG_008660.1:g.58565C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1237C>T	ENSP00000183936.4:p.Arg413Cys
ENST00000357568.8:c.1381C>T	ENSP00000350181.3:p.Arg461Cys
ENST00000397163.8:c.1381C>T MANE Select	ENSP00000380349.3:p.Arg461Cys
ENST00000466369.5:n.1890C>T
ENST00000483208.5:n.1612C>T
ENST00000495723.1:n.1612C>T
ENST00000549793.5:n.1612C>T
ENST00000638141.2:n.1252C>T
ENST00000673705.1:c.309+2015C>T	ENSP00000501021.1:n.309+2015C>T
ENST00000318023.11:c.1237C>T	ENSP00000326281.8:p.Arg413Cys
ENST00000349748.7:c.1237C>T	ENSP00000183936.4:p.Arg413Cys
ENST00000357568.7:c.1381C>T	ENSP00000350181.3:p.Arg461Cys
ENST00000397163.7:c.1381C>T	ENSP00000380349.3:p.Arg461Cys
NM_000070.2:c.1381C>T	NP_000061.1:p.Arg461Cys
NM_024344.1:c.1381C>T	NP_077320.1:p.Arg461Cys
NM_173087.1:c.1237C>T	NP_775110.1:p.Arg413Cys
NM_000070.3:c.1381C>T MANE Select	NP_000061.1:p.Arg461Cys
NM_024344.2:c.1381C>T	NP_077320.1:p.Arg461Cys
NM_173087.2:c.1237C>T	NP_775110.1:p.Arg413Cys