Canonical Allele Identifier: CA6146596

Gene: NDUFS8

Linked Data

• dbSNP Id: rs189676122
• ExAC: 11:67804105 G / C
• gnomAD v2: 11-67804105-G-C
• gnomAD v3: 11-68036638-G-C
• gnomAD v4: 11-68036638-G-C
• MyVariant Identifiers: chr11:g.67804105G>C (hg19) ; chr11:g.68036638G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68036638G>C , CM000673.2:g.68036638G>C	GRCh38
NC_000011.9:g.67804105G>C , CM000673.1:g.67804105G>C	GRCh37
NC_000011.8:g.67560681G>C	NCBI36
NG_007878.1:g.2623G>C , LRG_115:g.2623G>C
NG_017040.1:g.11022G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.*45G>C MANE Select	ENSP00000315774.5:n.*45G>C
ENST00000313468.9:c.*45G>C	ENSP00000315774.5:n.*45G>C
ENST00000524810.5:c.610G>C
ENST00000528492.1:c.*45G>C	ENSP00000432848.1:n.*45G>C
ENST00000531282.1:n.530G>C
NM_002496.3:c.*45G>C	NP_002487.1:n.*45G>C
XM_005274013.1:c.*45G>C	XP_005274070.1:n.*45G>C
XM_005274014.1:c.*45G>C	XP_005274071.1:n.*45G>C
XM_005274015.1:c.*45G>C	XP_005274072.1:n.*45G>C
XM_011545053.1:c.*45G>C	XP_011543355.1:n.*45G>C
NM_002496.4:c.*45G>C MANE Select	NP_002487.1:n.*45G>C