Canonical Allele Identifier: CA7511313
Gene: CAPN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 282173
dbSNP Id: rs149914792

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42399601G>A , CM000677.2:g.42399601G>A GRCh38
NC_000015.9:g.42691799G>A , CM000677.1:g.42691799G>A GRCh37
NC_000015.8:g.40479091G>A NCBI36
NG_008660.1:g.56499G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000349748.8:c.1159G>A ENSP00000183936.4:p.Glu387Lys
ENST00000357568.8:c.1303G>A ENSP00000350181.3:p.Glu435Lys
ENST00000397163.8:c.1303G>A MANE Select ENSP00000380349.3:p.Glu435Lys
ENST00000466369.5:n.1812G>A
ENST00000483208.5:n.1534G>A
ENST00000495723.1:n.1534G>A
ENST00000549793.5:n.1534G>A
ENST00000638141.2:n.1174G>A
ENST00000673658.1:n.287G>A
ENST00000673705.1:c.258G>A ENSP00000501021.1:n.258G>A
ENST00000318023.11:c.1159G>A ENSP00000326281.8:p.Glu387Lys
ENST00000349748.7:c.1159G>A ENSP00000183936.4:p.Glu387Lys
ENST00000357568.7:c.1303G>A ENSP00000350181.3:p.Glu435Lys
ENST00000397163.7:c.1303G>A ENSP00000380349.3:p.Glu435Lys
NM_000070.2:c.1303G>A NP_000061.1:p.Glu435Lys
NM_024344.1:c.1303G>A NP_077320.1:p.Glu435Lys
NM_173087.1:c.1159G>A NP_775110.1:p.Glu387Lys
NM_000070.3:c.1303G>A MANE Select NP_000061.1:p.Glu435Lys
NM_024344.2:c.1303G>A NP_077320.1:p.Glu435Lys
NM_173087.2:c.1159G>A NP_775110.1:p.Glu387Lys