Canonical Allele Identifier: CA224241665
Gene: NDUFS8 HGNC NCBI

Linked Data

ClinVar Variation Id: 1313905
ClinVar RCV Id: RCV001771136
dbSNP Id: rs1002714490

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68033239C>T , CM000673.2:g.68033239C>T GRCh38
NC_000011.9:g.67800706C>T , CM000673.1:g.67800706C>T GRCh37
NC_000011.8:g.67557282C>T NCBI36
NG_017040.1:g.7623C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000313468.10:c.328C>T MANE Select ENSP00000315774.5:p.Arg110Cys
ENST00000313468.9:c.328C>T ENSP00000315774.5:p.Arg110Cys
ENST00000432321.6:n.445C>T
ENST00000453471.6:c.328C>T ENSP00000403972.2:p.Arg110Cys
ENST00000524810.5:c.99C>T
ENST00000525419.5:c.274C>T ENSP00000433521.1:p.Arg92Cys
ENST00000525628.1:c.328C>T ENSP00000432968.1:p.Arg110Cys
ENST00000526339.5:c.328C>T ENSP00000436287.1:p.Arg110Cys
ENST00000526446.5:c.*383C>T ENSP00000433645.1:n.*383C>T
ENST00000528492.1:c.-67+2506C>T ENSP00000432848.1:n.-67+2506C>T
ENST00000529645.1:c.506C>T ENSP00000431293.1:n.506C>T
ENST00000532399.1:n.1033C>T
NM_002496.3:c.328C>T NP_002487.1:p.Arg110Cys
XM_005274013.1:c.328C>T XP_005274070.1:p.Arg110Cys
XM_005274014.1:c.328C>T XP_005274071.1:p.Arg110Cys
XM_005274015.1:c.208C>T XP_005274072.1:p.Arg70Cys
XM_011545053.1:c.328C>T XP_011543355.1:p.Arg110Cys
NM_002496.4:c.328C>T MANE Select NP_002487.1:p.Arg110Cys