Canonical Allele Identifier: CA341473
Gene: CAPN3 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 17616
ClinVar RCV Id: RCV000019182
dbSNP Id: rs121434546

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42360062C>T , CM000677.2:g.42360062C>T GRCh38
NC_000015.9:g.42652260C>T , CM000677.1:g.42652260C>T GRCh37
NC_000015.8:g.40439552C>T NCBI36
NG_008660.1:g.16960C>T

Transcript Alleles

HGVS Amino-acid change
NM_000070.2:c.257C>T VV NP_000061.1:p.Ser86Phe
NM_024344.1:c.257C>T VV NP_077320.1:p.Ser86Phe
NM_173087.1:c.257C>T VV NP_775110.1:p.Ser86Phe
ENST00000318023.11:c.257C>T ENSP00000326281.8:p.Ser86Phe
ENST00000349748.7:c.257C>T ENSP00000183936.4:p.Ser86Phe
ENST00000357568.7:c.257C>T ENSP00000350181.3:p.Ser86Phe
ENST00000397163.7:c.257C>T ENSP00000380349.3:p.Ser86Phe