Canonical Allele Identifier: CA269834860
Gene: CAPN3 HGNC NCBI

Linked Data

dbSNP Id: rs908444523

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42388836C>T , CM000677.2:g.42388836C>T GRCh38
NC_000015.9:g.42681034C>T , CM000677.1:g.42681034C>T GRCh37
NC_000015.8:g.40468326C>T NCBI36
NG_008660.1:g.45734C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000349748.8:c.633-92C>T ENSP00000183936.4:n.633-92C>T
ENST00000357568.8:c.633-92C>T ENSP00000350181.3:n.633-92C>T
ENST00000397163.8:c.633-92C>T MANE Select ENSP00000380349.3:n.633-92C>T
ENST00000466369.5:n.1142-92C>T
ENST00000483208.5:n.864-92C>T
ENST00000495723.1:n.864-92C>T
ENST00000549793.5:n.864-92C>T
ENST00000638141.2:n.648-92C>T
ENST00000673705.1:c.70+4284C>T ENSP00000501021.1:n.70+4284C>T
ENST00000318023.11:c.633-92C>T ENSP00000326281.8:n.633-92C>T
ENST00000349748.7:c.633-92C>T ENSP00000183936.4:n.633-92C>T
ENST00000357568.7:c.633-92C>T ENSP00000350181.3:n.633-92C>T
ENST00000397163.7:c.633-92C>T ENSP00000380349.3:n.633-92C>T
NM_000070.2:c.633-92C>T NP_000061.1:n.633-92C>T
NM_024344.1:c.633-92C>T NP_077320.1:n.633-92C>T
NM_173087.1:c.633-92C>T NP_775110.1:n.633-92C>T
NM_000070.3:c.633-92C>T MANE Select NP_000061.1:n.633-92C>T
NM_024344.2:c.633-92C>T NP_077320.1:n.633-92C>T
NM_173087.2:c.633-92C>T NP_775110.1:n.633-92C>T