Canonical Allele Identifier: CA2172712030
Gene: CAPN3 HGNC NCBI

Linked Data

dbSNP Id: rs368476243

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42392592C>A , CM000677.2:g.42392592C>A GRCh38
NC_000015.9:g.42684790C>A , CM000677.1:g.42684790C>A GRCh37
NC_000015.8:g.40472082C>A NCBI36
NG_008660.1:g.49490C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000349748.8:c.802-47C>A ENSP00000183936.4:n.802-47C>A
ENST00000357568.8:c.946-47C>A ENSP00000350181.3:n.946-47C>A
ENST00000397163.8:c.946-47C>A MANE Select ENSP00000380349.3:n.946-47C>A
ENST00000466369.5:n.1455-47C>A
ENST00000483208.5:n.1177-47C>A
ENST00000495723.1:n.1177-47C>A
ENST00000549793.5:n.1177-47C>A
ENST00000638141.2:n.817-47C>A
ENST00000673705.1:c.71-4208C>A ENSP00000501021.1:n.71-4208C>A
ENST00000318023.11:c.802-47C>A ENSP00000326281.8:n.802-47C>A
ENST00000349748.7:c.802-47C>A ENSP00000183936.4:n.802-47C>A
ENST00000357568.7:c.946-47C>A ENSP00000350181.3:n.946-47C>A
ENST00000397163.7:c.946-47C>A ENSP00000380349.3:n.946-47C>A
NM_000070.2:c.946-47C>A NP_000061.1:n.946-47C>A
NM_024344.1:c.946-47C>A NP_077320.1:n.946-47C>A
NM_173087.1:c.802-47C>A NP_775110.1:n.802-47C>A
NM_000070.3:c.946-47C>A MANE Select NP_000061.1:n.946-47C>A
NM_024344.2:c.946-47C>A NP_077320.1:n.946-47C>A
NM_173087.2:c.802-47C>A NP_775110.1:n.802-47C>A