Canonical Allele Identifier: CA220343
Gene: CAPN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 92408
dbSNP Id: rs201892814

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42403721C>G , CM000677.2:g.42403721C>G GRCh38
NC_000015.9:g.42695919C>G , CM000677.1:g.42695919C>G GRCh37
NC_000015.8:g.40483211C>G NCBI36
NG_008660.1:g.60619C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000349748.8:c.1602-20C>G ENSP00000183936.4:n.1602-20C>G
ENST00000357568.8:c.1746-20C>G ENSP00000350181.3:n.1746-20C>G
ENST00000397163.8:c.1746-20C>G MANE Select ENSP00000380349.3:n.1746-20C>G
ENST00000466369.5:n.2255-20C>G
ENST00000483208.5:n.2635-20C>G
ENST00000495723.1:n.2635-20C>G
ENST00000549793.5:n.1977-20C>G
ENST00000638141.2:n.1617-20C>G
ENST00000673646.1:c.210-20C>G ENSP00000501007.1:n.210-20C>G
ENST00000673705.1:c.309+4069C>G ENSP00000501021.1:n.309+4069C>G
ENST00000673813.1:n.581-20C>G
ENST00000318023.11:c.1602-20C>G ENSP00000326281.8:n.1602-20C>G
ENST00000349748.7:c.1602-20C>G ENSP00000183936.4:n.1602-20C>G
ENST00000357568.7:c.1746-20C>G ENSP00000350181.3:n.1746-20C>G
ENST00000397163.7:c.1746-20C>G ENSP00000380349.3:n.1746-20C>G
ENST00000397200.8:c.210-20C>G ENSP00000380384.4:n.210-20C>G
ENST00000567071.5:c.205-20C>G
ENST00000569827.5:c.210-20C>G ENSP00000454379.1:n.210-20C>G
NM_000070.2:c.1746-20C>G NP_000061.1:n.1746-20C>G
NM_024344.1:c.1746-20C>G NP_077320.1:n.1746-20C>G
NM_173087.1:c.1602-20C>G NP_775110.1:n.1602-20C>G
NM_173088.1:c.210-20C>G NP_775111.1:n.210-20C>G
NM_000070.3:c.1746-20C>G MANE Select NP_000061.1:n.1746-20C>G
NM_024344.2:c.1746-20C>G NP_077320.1:n.1746-20C>G
NM_173087.2:c.1602-20C>G NP_775110.1:n.1602-20C>G
NM_173088.2:c.210-20C>G NP_775111.1:n.210-20C>G