Canonical Allele Identifier: CA712897380
Gene: CAPN3 HGNC NCBI

Linked Data

dbSNP Id: rs781449760

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42392602C>G , CM000677.2:g.42392602C>G GRCh38
NC_000015.9:g.42684800C>G , CM000677.1:g.42684800C>G GRCh37
NC_000015.8:g.40472092C>G NCBI36
NG_008660.1:g.49500C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000349748.8:c.802-37C>G ENSP00000183936.4:n.802-37C>G
ENST00000357568.8:c.946-37C>G ENSP00000350181.3:n.946-37C>G
ENST00000397163.8:c.946-37C>G MANE Select ENSP00000380349.3:n.946-37C>G
ENST00000466369.5:n.1455-37C>G
ENST00000483208.5:n.1177-37C>G
ENST00000495723.1:n.1177-37C>G
ENST00000549793.5:n.1177-37C>G
ENST00000638141.2:n.817-37C>G
ENST00000673705.1:c.71-4198C>G ENSP00000501021.1:n.71-4198C>G
ENST00000318023.11:c.802-37C>G ENSP00000326281.8:n.802-37C>G
ENST00000349748.7:c.802-37C>G ENSP00000183936.4:n.802-37C>G
ENST00000357568.7:c.946-37C>G ENSP00000350181.3:n.946-37C>G
ENST00000397163.7:c.946-37C>G ENSP00000380349.3:n.946-37C>G
NM_000070.2:c.946-37C>G NP_000061.1:n.946-37C>G
NM_024344.1:c.946-37C>G NP_077320.1:n.946-37C>G
NM_173087.1:c.802-37C>G NP_775110.1:n.802-37C>G
NM_000070.3:c.946-37C>G MANE Select NP_000061.1:n.946-37C>G
NM_024344.2:c.946-37C>G NP_077320.1:n.946-37C>G
NM_173087.2:c.802-37C>G NP_775110.1:n.802-37C>G