Canonical Allele Identifier: CA381569417

Gene: NDUFS8

Linked Data

• gnomAD v4: 11-68036367-G-C
• MyVariant Identifiers: chr11:g.67803834G>C (hg19) ; chr11:g.68036367G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68036367G>C , CM000673.2:g.68036367G>C	GRCh38
NC_000011.9:g.67803834G>C , CM000673.1:g.67803834G>C	GRCh37
NC_000011.8:g.67560410G>C	NCBI36
NG_007878.1:g.2352G>C , LRG_115:g.2352G>C
NG_017040.1:g.10751G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.487G>C MANE Select	ENSP00000315774.5:p.Asp163His
ENST00000313468.9:c.487G>C	ENSP00000315774.5:p.Asp163His
ENST00000524810.5:c.419G>C
ENST00000526339.5:c.487G>C	ENSP00000436287.1:p.Asp163His
ENST00000526446.5:c.*542G>C	ENSP00000433645.1:n.*542G>C
ENST00000528492.1:c.49G>C	ENSP00000432848.1:p.Asp17His
ENST00000531282.1:n.339G>C
NM_002496.3:c.487G>C	NP_002487.1:p.Asp163His
XM_005274013.1:c.487G>C	XP_005274070.1:p.Asp163His
XM_005274014.1:c.487G>C	XP_005274071.1:p.Asp163His
XM_005274015.1:c.367G>C	XP_005274072.1:p.Asp123His
XM_011545053.1:c.487G>C	XP_011543355.1:p.Asp163His
NM_002496.4:c.487G>C MANE Select	NP_002487.1:p.Asp163His