Canonical Allele Identifier: CA2172710411
Gene: CAPN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42389221C= , CM000677.2:g.42389221C= GRCh38
NC_000015.9:g.42681419C= , CM000677.1:g.42681419C= GRCh37
NC_000015.8:g.40468711C= NCBI36
NG_008660.1:g.46119C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000349748.8:c.801+125C= ENSP00000183936.4:n.801+125C=
ENST00000357568.8:c.801+125C= ENSP00000350181.3:n.801+125C=
ENST00000397163.8:c.801+125C= MANE Select ENSP00000380349.3:n.801+125C=
ENST00000466369.5:n.1310+125C=
ENST00000483208.5:n.1032+125C=
ENST00000495723.1:n.1032+125C=
ENST00000549793.5:n.1032+125C=
ENST00000638141.2:n.816+125C=
ENST00000673705.1:c.70+4669C= ENSP00000501021.1:n.70+4669C=
ENST00000318023.11:c.801+125C= ENSP00000326281.8:n.801+125C=
ENST00000349748.7:c.801+125C= ENSP00000183936.4:n.801+125C=
ENST00000357568.7:c.801+125C= ENSP00000350181.3:n.801+125C=
ENST00000397163.7:c.801+125C= ENSP00000380349.3:n.801+125C=
NM_000070.2:c.801+125C= NP_000061.1:n.801+125C=
NM_024344.1:c.801+125C= NP_077320.1:n.801+125C=
NM_173087.1:c.801+125C= NP_775110.1:n.801+125C=
NM_000070.3:c.801+125C= MANE Select NP_000061.1:n.801+125C=
NM_024344.2:c.801+125C= NP_077320.1:n.801+125C=
NM_173087.2:c.801+125C= NP_775110.1:n.801+125C=