Canonical Allele Identifier: CA6146526

Gene: NDUFS8

Linked Data

• dbSNP Id: rs770184969
• ExAC: 11:67803772 G / A
• gnomAD v2: 11-67803772-G-A
• gnomAD v3: 11-68036305-G-A
• gnomAD v4: 11-68036305-G-A
• MyVariant Identifiers: chr11:g.67803772G>A (hg19) ; chr11:g.68036305G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68036305G>A , CM000673.2:g.68036305G>A	GRCh38
NC_000011.9:g.67803772G>A , CM000673.1:g.67803772G>A	GRCh37
NC_000011.8:g.67560348G>A	NCBI36
NG_007878.1:g.2290G>A , LRG_115:g.2290G>A
NG_017040.1:g.10689G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000313468.10:c.425G>A MANE Select	ENSP00000315774.5:p.Arg142His
ENST00000313468.9:c.425G>A	ENSP00000315774.5:p.Arg142His
ENST00000524810.5:c.357G>A
ENST00000525419.5:c.371G>A	ENSP00000433521.1:p.Arg124His
ENST00000526339.5:c.425G>A	ENSP00000436287.1:p.Arg142His
ENST00000526446.5:c.*480G>A	ENSP00000433645.1:n.*480G>A
ENST00000528492.1:c.-14G>A	ENSP00000432848.1:n.-14G>A
ENST00000531282.1:n.277G>A
NM_002496.3:c.425G>A	NP_002487.1:p.Arg142His
XM_005274013.1:c.425G>A	XP_005274070.1:p.Arg142His
XM_005274014.1:c.425G>A	XP_005274071.1:p.Arg142His
XM_005274015.1:c.305G>A	XP_005274072.1:p.Arg102His
XM_011545053.1:c.425G>A	XP_011543355.1:p.Arg142His
NM_002496.4:c.425G>A MANE Select	NP_002487.1:p.Arg142His