Canonical Allele Identifier: CA2803913614
Gene: CAPN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42392508C>T , CM000677.2:g.42392508C>T GRCh38
NC_000015.9:g.42684706C>T , CM000677.1:g.42684706C>T GRCh37
NC_000015.8:g.40471998C>T NCBI36
NG_008660.1:g.49406C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000349748.8:c.802-131C>T ENSP00000183936.4:n.802-131C>T
ENST00000357568.8:c.946-131C>T ENSP00000350181.3:n.946-131C>T
ENST00000397163.8:c.946-131C>T MANE Select ENSP00000380349.3:n.946-131C>T
ENST00000466369.5:n.1455-131C>T
ENST00000483208.5:n.1177-131C>T
ENST00000495723.1:n.1177-131C>T
ENST00000549793.5:n.1177-131C>T
ENST00000638141.2:n.817-131C>T
ENST00000673705.1:c.71-4292C>T ENSP00000501021.1:n.71-4292C>T
ENST00000318023.11:c.802-131C>T ENSP00000326281.8:n.802-131C>T
ENST00000349748.7:c.802-131C>T ENSP00000183936.4:n.802-131C>T
ENST00000357568.7:c.946-131C>T ENSP00000350181.3:n.946-131C>T
ENST00000397163.7:c.946-131C>T ENSP00000380349.3:n.946-131C>T
NM_000070.2:c.946-131C>T NP_000061.1:n.946-131C>T
NM_024344.1:c.946-131C>T NP_077320.1:n.946-131C>T
NM_173087.1:c.802-131C>T NP_775110.1:n.802-131C>T
NM_000070.3:c.946-131C>T MANE Select NP_000061.1:n.946-131C>T
NM_024344.2:c.946-131C>T NP_077320.1:n.946-131C>T
NM_173087.2:c.802-131C>T NP_775110.1:n.802-131C>T