Canonical Allele Identifier: CA6146448

Gene: NDUFS8

Linked Data

• dbSNP Id: rs757441819
• ExAC: 11:67800729 C / G
• gnomAD v2: 11-67800729-C-G
• gnomAD v4: 11-68033262-C-G
• MyVariant Identifiers: chr11:g.67800729C>G (hg19) ; chr11:g.68033262C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68033262C>G , CM000673.2:g.68033262C>G	GRCh38
NC_000011.9:g.67800729C>G , CM000673.1:g.67800729C>G	GRCh37
NC_000011.8:g.67557305C>G	NCBI36
NG_017040.1:g.7646C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.351C>G MANE Select	ENSP00000315774.5:p.Cys117Trp
ENST00000313468.9:c.351C>G	ENSP00000315774.5:p.Cys117Trp
ENST00000432321.6:n.468C>G
ENST00000453471.6:c.351C>G	ENSP00000403972.2:p.Cys117Trp
ENST00000524810.5:c.122C>G
ENST00000525419.5:c.297C>G	ENSP00000433521.1:p.Cys99Trp
ENST00000526339.5:c.351C>G	ENSP00000436287.1:p.Cys117Trp
ENST00000526446.5:c.*406C>G	ENSP00000433645.1:n.*406C>G
ENST00000528492.1:c.-67+2529C>G	ENSP00000432848.1:n.-67+2529C>G
ENST00000529645.1:c.529C>G	ENSP00000431293.1:n.529C>G
ENST00000532399.1:n.1056C>G
NM_002496.3:c.351C>G	NP_002487.1:p.Cys117Trp
XM_005274013.1:c.351C>G	XP_005274070.1:p.Cys117Trp
XM_005274014.1:c.351C>G	XP_005274071.1:p.Cys117Trp
XM_005274015.1:c.231C>G	XP_005274072.1:p.Cys77Trp
XM_011545053.1:c.351C>G	XP_011543355.1:p.Cys117Trp
NM_002496.4:c.351C>G MANE Select	NP_002487.1:p.Cys117Trp