Canonical Allele Identifier: CA2843508419
Gene: CAPN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42392584C>T , CM000677.2:g.42392584C>T GRCh38
NC_000015.9:g.42684782C>T , CM000677.1:g.42684782C>T GRCh37
NC_000015.8:g.40472074C>T NCBI36
NG_008660.1:g.49482C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000349748.8:c.802-55C>T ENSP00000183936.4:n.802-55C>T
ENST00000357568.8:c.946-55C>T ENSP00000350181.3:n.946-55C>T
ENST00000397163.8:c.946-55C>T MANE Select ENSP00000380349.3:n.946-55C>T
ENST00000466369.5:n.1455-55C>T
ENST00000483208.5:n.1177-55C>T
ENST00000495723.1:n.1177-55C>T
ENST00000549793.5:n.1177-55C>T
ENST00000638141.2:n.817-55C>T
ENST00000673705.1:c.71-4216C>T ENSP00000501021.1:n.71-4216C>T
ENST00000318023.11:c.802-55C>T ENSP00000326281.8:n.802-55C>T
ENST00000349748.7:c.802-55C>T ENSP00000183936.4:n.802-55C>T
ENST00000357568.7:c.946-55C>T ENSP00000350181.3:n.946-55C>T
ENST00000397163.7:c.946-55C>T ENSP00000380349.3:n.946-55C>T
NM_000070.2:c.946-55C>T NP_000061.1:n.946-55C>T
NM_024344.1:c.946-55C>T NP_077320.1:n.946-55C>T
NM_173087.1:c.802-55C>T NP_775110.1:n.802-55C>T
NM_000070.3:c.946-55C>T MANE Select NP_000061.1:n.946-55C>T
NM_024344.2:c.946-55C>T NP_077320.1:n.946-55C>T
NM_173087.2:c.802-55C>T NP_775110.1:n.802-55C>T