Canonical Allele Identifier: CA2172710277
Gene: CAPN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42388964C= , CM000677.2:g.42388964C= GRCh38
NC_000015.9:g.42681162C= , CM000677.1:g.42681162C= GRCh37
NC_000015.8:g.40468454C= NCBI36
NG_008660.1:g.45862C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000349748.8:c.669C= ENSP00000183936.4:p.Asn223=
ENST00000357568.8:c.669C= ENSP00000350181.3:p.Asn223=
ENST00000397163.8:c.669C= MANE Select ENSP00000380349.3:p.Asn223=
ENST00000466369.5:n.1178C=
ENST00000483208.5:n.900C=
ENST00000495723.1:n.900C=
ENST00000549793.5:n.900C=
ENST00000638141.2:n.684C=
ENST00000673705.1:c.70+4412C= ENSP00000501021.1:n.70+4412C=
ENST00000318023.11:c.669C= ENSP00000326281.8:p.Asn223=
ENST00000349748.7:c.669C= ENSP00000183936.4:p.Asn223=
ENST00000357568.7:c.669C= ENSP00000350181.3:p.Asn223=
ENST00000397163.7:c.669C= ENSP00000380349.3:p.Asn223=
NM_000070.2:c.669C= NP_000061.1:p.Asn223=
NM_024344.1:c.669C= NP_077320.1:p.Asn223=
NM_173087.1:c.669C= NP_775110.1:p.Asn223=
NM_000070.3:c.669C= MANE Select NP_000061.1:p.Asn223=
NM_024344.2:c.669C= NP_077320.1:p.Asn223=
NM_173087.2:c.669C= NP_775110.1:p.Asn223=