Canonical Allele Identifier: CA6146386

Gene: NDUFS8

Linked Data

• ClinVar Variation Id: 305763
• ClinVar RCV Id: RCV000317408 ; RCV000372098
• dbSNP Id: rs764943259
• ExAC: 11:67800413 G / A
• gnomAD v2: 11-67800413-G-A
• gnomAD v3: 11-68032946-G-A
• gnomAD v4: 11-68032946-G-A
• MyVariant Identifiers: chr11:g.67800413G>A (hg19) ; chr11:g.68032946G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68032946G>A , CM000673.2:g.68032946G>A	GRCh38
NC_000011.9:g.67800413G>A , CM000673.1:g.67800413G>A	GRCh37
NC_000011.8:g.67556989G>A	NCBI36
NG_017040.1:g.7330G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000313468.10:c.133G>A MANE Select	ENSP00000315774.5:p.Glu45Lys
ENST00000313468.9:c.133G>A	ENSP00000315774.5:p.Glu45Lys
ENST00000432321.6:n.250G>A
ENST00000453471.6:c.133G>A	ENSP00000403972.2:p.Glu45Lys
ENST00000525419.5:c.79G>A	ENSP00000433521.1:p.Glu27Lys
ENST00000525628.1:c.133G>A	ENSP00000432968.1:p.Glu45Lys
ENST00000526339.5:c.133G>A	ENSP00000436287.1:p.Glu45Lys
ENST00000526446.5:c.*188G>A	ENSP00000433645.1:n.*188G>A
ENST00000528492.1:c.-67+2213G>A	ENSP00000432848.1:n.-67+2213G>A
ENST00000529645.1:c.311G>A	ENSP00000431293.1:n.311G>A
ENST00000531228.1:c.188G>A	ENSP00000433054.1:p.Arg63Gln
ENST00000532399.1:n.740G>A
NM_002496.3:c.133G>A	NP_002487.1:p.Glu45Lys
XM_005274013.1:c.133G>A	XP_005274070.1:p.Glu45Lys
XM_005274014.1:c.133G>A	XP_005274071.1:p.Glu45Lys
XM_005274015.1:c.13G>A	XP_005274072.1:p.Glu5Lys
XM_011545053.1:c.133G>A	XP_011543355.1:p.Glu45Lys
NM_002496.4:c.133G>A MANE Select	NP_002487.1:p.Glu45Lys