Canonical Allele Identifier: CA7511103
Gene: CAPN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 289752
dbSNP Id: rs779939785

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42389044A>G , CM000677.2:g.42389044A>G GRCh38
NC_000015.9:g.42681242A>G , CM000677.1:g.42681242A>G GRCh37
NC_000015.8:g.40468534A>G NCBI36
NG_008660.1:g.45942A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000349748.8:c.749A>G ENSP00000183936.4:p.Lys250Arg
ENST00000357568.8:c.749A>G ENSP00000350181.3:p.Lys250Arg
ENST00000397163.8:c.749A>G MANE Select ENSP00000380349.3:p.Lys250Arg
ENST00000466369.5:n.1258A>G
ENST00000483208.5:n.980A>G
ENST00000495723.1:n.980A>G
ENST00000549793.5:n.980A>G
ENST00000638141.2:n.764A>G
ENST00000673705.1:c.70+4492A>G ENSP00000501021.1:n.70+4492A>G
ENST00000318023.11:c.749A>G ENSP00000326281.8:p.Lys250Arg
ENST00000349748.7:c.749A>G ENSP00000183936.4:p.Lys250Arg
ENST00000357568.7:c.749A>G ENSP00000350181.3:p.Lys250Arg
ENST00000397163.7:c.749A>G ENSP00000380349.3:p.Lys250Arg
NM_000070.2:c.749A>G NP_000061.1:p.Lys250Arg
NM_024344.1:c.749A>G NP_077320.1:p.Lys250Arg
NM_173087.1:c.749A>G NP_775110.1:p.Lys250Arg
NM_000070.3:c.749A>G MANE Select NP_000061.1:p.Lys250Arg
NM_024344.2:c.749A>G NP_077320.1:p.Lys250Arg
NM_173087.2:c.749A>G NP_775110.1:p.Lys250Arg