Canonical Allele Identifier: CA179838
Gene: CAPN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 166787
dbSNP Id: rs28364441

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42392677C>T , CM000677.2:g.42392677C>T GRCh38
NC_000015.9:g.42684875C>T , CM000677.1:g.42684875C>T GRCh37
NC_000015.8:g.40472167C>T NCBI36
NG_008660.1:g.49575C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000349748.8:c.840C>T ENSP00000183936.4:p.Cys280=
ENST00000357568.8:c.984C>T ENSP00000350181.3:p.Cys328=
ENST00000397163.8:c.984C>T MANE Select ENSP00000380349.3:p.Cys328=
ENST00000466369.5:n.1493C>T
ENST00000483208.5:n.1215C>T
ENST00000495723.1:n.1215C>T
ENST00000549793.5:n.1215C>T
ENST00000638141.2:n.855C>T
ENST00000673705.1:n.71-4123C>T ENSP00000501021.1:p.=
ENST00000318023.11:c.840C>T ENSP00000326281.8:p.Cys280=
ENST00000349748.7:c.840C>T ENSP00000183936.4:p.Cys280=
ENST00000357568.7:c.984C>T ENSP00000350181.3:p.Cys328=
ENST00000397163.7:c.984C>T ENSP00000380349.3:p.Cys328=
NM_000070.2:c.984C>T NP_000061.1:p.Cys328=
NM_024344.1:c.984C>T NP_077320.1:p.Cys328=
NM_173087.1:c.840C>T NP_775110.1:p.Cys280=
NM_000070.3:c.984C>T MANE Select NP_000061.1:p.Cys328=
NM_024344.2:c.984C>T NP_077320.1:p.Cys328=
NM_173087.2:c.840C>T NP_775110.1:p.Cys280=