Canonical Allele Identifier: CA7511352
Gene: CAPN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1440092
ClinVar RCV Id: RCV001936796
dbSNP Id: rs534326487

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42401690C>G , CM000677.2:g.42401690C>G GRCh38
NC_000015.9:g.42693888C>G , CM000677.1:g.42693888C>G GRCh37
NC_000015.8:g.40481180C>G NCBI36
NG_008660.1:g.58588C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000349748.8:c.1260C>G ENSP00000183936.4:p.Asp420Glu
ENST00000357568.8:c.1404C>G ENSP00000350181.3:p.Asp468Glu
ENST00000397163.8:c.1404C>G MANE Select ENSP00000380349.3:p.Asp468Glu
ENST00000466369.5:n.1913C>G
ENST00000483208.5:n.1635C>G
ENST00000495723.1:n.1635C>G
ENST00000549793.5:n.1635C>G
ENST00000638141.2:n.1275C>G
ENST00000673705.1:c.309+2038C>G ENSP00000501021.1:n.309+2038C>G
ENST00000318023.11:c.1260C>G ENSP00000326281.8:p.Asp420Glu
ENST00000349748.7:c.1260C>G ENSP00000183936.4:p.Asp420Glu
ENST00000357568.7:c.1404C>G ENSP00000350181.3:p.Asp468Glu
ENST00000397163.7:c.1404C>G ENSP00000380349.3:p.Asp468Glu
NM_000070.2:c.1404C>G NP_000061.1:p.Asp468Glu
NM_024344.1:c.1404C>G NP_077320.1:p.Asp468Glu
NM_173087.1:c.1260C>G NP_775110.1:p.Asp420Glu
NM_000070.3:c.1404C>G MANE Select NP_000061.1:p.Asp468Glu
NM_024344.2:c.1404C>G NP_077320.1:p.Asp468Glu
NM_173087.2:c.1260C>G NP_775110.1:p.Asp420Glu