Canonical Allele Identifier: CA381599717

Gene: NDUFS8

Linked Data

• gnomAD v4: 11-68033165-C-G
• MyVariant Identifiers: chr11:g.67800632C>G (hg19) ; chr11:g.68033165C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68033165C>G , CM000673.2:g.68033165C>G	GRCh38
NC_000011.9:g.67800632C>G , CM000673.1:g.67800632C>G	GRCh37
NC_000011.8:g.67557208C>G	NCBI36
NG_017040.1:g.7549C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.254C>G MANE Select	ENSP00000315774.5:p.Pro85Arg
ENST00000313468.9:c.254C>G	ENSP00000315774.5:p.Pro85Arg
ENST00000432321.6:n.371C>G
ENST00000453471.6:c.254C>G	ENSP00000403972.2:p.Pro85Arg
ENST00000524810.5:c.25C>G
ENST00000525419.5:c.200C>G	ENSP00000433521.1:p.Pro67Arg
ENST00000525628.1:c.254C>G	ENSP00000432968.1:p.Pro85Arg
ENST00000526339.5:c.254C>G	ENSP00000436287.1:p.Pro85Arg
ENST00000526446.5:c.*309C>G	ENSP00000433645.1:n.*309C>G
ENST00000528492.1:c.-67+2432C>G	ENSP00000432848.1:n.-67+2432C>G
ENST00000529645.1:c.432C>G	ENSP00000431293.1:n.432C>G
ENST00000531228.1:c.*96C>G	ENSP00000433054.1:n.*96C>G
ENST00000532399.1:n.959C>G
NM_002496.3:c.254C>G	NP_002487.1:p.Pro85Arg
XM_005274013.1:c.254C>G	XP_005274070.1:p.Pro85Arg
XM_005274014.1:c.254C>G	XP_005274071.1:p.Pro85Arg
XM_005274015.1:c.134C>G	XP_005274072.1:p.Pro45Arg
XM_011545053.1:c.254C>G	XP_011543355.1:p.Pro85Arg
NM_002496.4:c.254C>G MANE Select	NP_002487.1:p.Pro85Arg