Canonical Allele Identifier: CA381599844

Gene: NDUFS8

Linked Data

• dbSNP Id: rs1196982492
• gnomAD v2: 11-67800654-C-G
• gnomAD v4: 11-68033187-C-G
• MyVariant Identifiers: chr11:g.67800654C>G (hg19) ; chr11:g.68033187C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68033187C>G , CM000673.2:g.68033187C>G	GRCh38
NC_000011.9:g.67800654C>G , CM000673.1:g.67800654C>G	GRCh37
NC_000011.8:g.67557230C>G	NCBI36
NG_017040.1:g.7571C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.276C>G MANE Select	ENSP00000315774.5:p.Ser92Arg
ENST00000313468.9:c.276C>G	ENSP00000315774.5:p.Ser92Arg
ENST00000432321.6:n.393C>G
ENST00000453471.6:c.276C>G	ENSP00000403972.2:p.Ser92Arg
ENST00000524810.5:c.47C>G
ENST00000525419.5:c.222C>G	ENSP00000433521.1:p.Ser74Arg
ENST00000525628.1:c.276C>G	ENSP00000432968.1:p.Ser92Arg
ENST00000526339.5:c.276C>G	ENSP00000436287.1:p.Ser92Arg
ENST00000526446.5:c.*331C>G	ENSP00000433645.1:n.*331C>G
ENST00000528492.1:c.-67+2454C>G	ENSP00000432848.1:n.-67+2454C>G
ENST00000529645.1:c.454C>G	ENSP00000431293.1:n.454C>G
ENST00000531228.1:c.*118C>G	ENSP00000433054.1:n.*118C>G
ENST00000532399.1:n.981C>G
NM_002496.3:c.276C>G	NP_002487.1:p.Ser92Arg
XM_005274013.1:c.276C>G	XP_005274070.1:p.Ser92Arg
XM_005274014.1:c.276C>G	XP_005274071.1:p.Ser92Arg
XM_005274015.1:c.156C>G	XP_005274072.1:p.Ser52Arg
XM_011545053.1:c.276C>G	XP_011543355.1:p.Ser92Arg
NM_002496.4:c.276C>G MANE Select	NP_002487.1:p.Ser92Arg