Canonical Allele Identifier: CA381599618

Gene: NDUFS8

Linked Data

• gnomAD v4: 11-68033149-G-C
• MyVariant Identifiers: chr11:g.67800616G>C (hg19) ; chr11:g.68033149G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68033149G>C , CM000673.2:g.68033149G>C	GRCh38
NC_000011.9:g.67800616G>C , CM000673.1:g.67800616G>C	GRCh37
NC_000011.8:g.67557192G>C	NCBI36
NG_017040.1:g.7533G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.238G>C MANE Select	ENSP00000315774.5:p.Ala80Pro
ENST00000313468.9:c.238G>C	ENSP00000315774.5:p.Ala80Pro
ENST00000432321.6:n.355G>C
ENST00000453471.6:c.238G>C	ENSP00000403972.2:p.Ala80Pro
ENST00000524810.5:c.9G>C
ENST00000525419.5:c.184G>C	ENSP00000433521.1:p.Ala62Pro
ENST00000525628.1:c.238G>C	ENSP00000432968.1:p.Ala80Pro
ENST00000526339.5:c.238G>C	ENSP00000436287.1:p.Ala80Pro
ENST00000526446.5:c.*293G>C	ENSP00000433645.1:n.*293G>C
ENST00000528492.1:c.-67+2416G>C	ENSP00000432848.1:n.-67+2416G>C
ENST00000529645.1:c.416G>C	ENSP00000431293.1:n.416G>C
ENST00000531228.1:c.*80G>C	ENSP00000433054.1:n.*80G>C
ENST00000532399.1:n.943G>C
NM_002496.3:c.238G>C	NP_002487.1:p.Ala80Pro
XM_005274013.1:c.238G>C	XP_005274070.1:p.Ala80Pro
XM_005274014.1:c.238G>C	XP_005274071.1:p.Ala80Pro
XM_005274015.1:c.118G>C	XP_005274072.1:p.Ala40Pro
XM_011545053.1:c.238G>C	XP_011543355.1:p.Ala80Pro
NM_002496.4:c.238G>C MANE Select	NP_002487.1:p.Ala80Pro