Canonical Allele Identifier: CA16606374
Gene: NDUFS8 HGNC NCBI

Linked Data

ClinVar Variation Id: 381826
ClinVar RCV Id: RCV000426890
dbSNP Id: rs1057521183

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68033294G>T , CM000673.2:g.68033294G>T GRCh38
NC_000011.9:g.67800761G>T , CM000673.1:g.67800761G>T GRCh37
NC_000011.8:g.67557337G>T NCBI36
NG_017040.1:g.7678G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000313468.10:c.372+11G>T MANE Select ENSP00000315774.5:n.372+11G>T
ENST00000313468.9:c.372+11G>T ENSP00000315774.5:n.372+11G>T
ENST00000432321.6:n.500G>T
ENST00000524810.5:c.143+11G>T
ENST00000525419.5:c.318+11G>T ENSP00000433521.1:n.318+11G>T
ENST00000526339.5:c.372+11G>T ENSP00000436287.1:n.372+11G>T
ENST00000526446.5:c.*427+11G>T ENSP00000433645.1:n.*427+11G>T
ENST00000528492.1:c.-67+2561G>T ENSP00000432848.1:n.-67+2561G>T
ENST00000529645.1:c.550+11G>T ENSP00000431293.1:n.550+11G>T
ENST00000532399.1:n.1088G>T
NM_002496.3:c.372+11G>T NP_002487.1:n.372+11G>T
XM_005274013.1:c.372+11G>T XP_005274070.1:n.372+11G>T
XM_005274014.1:c.372+11G>T XP_005274071.1:n.372+11G>T
XM_005274015.1:c.252+11G>T XP_005274072.1:n.252+11G>T
XM_011545053.1:c.372+11G>T XP_011543355.1:n.372+11G>T
NM_002496.4:c.372+11G>T MANE Select NP_002487.1:n.372+11G>T