Canonical Allele Identifier: CA381600190

Gene: NDUFS8

Linked Data

• MyVariant Identifiers: chr11:g.67800720C>G (hg19) ; chr11:g.68033253C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68033253C>G , CM000673.2:g.68033253C>G	GRCh38
NC_000011.9:g.67800720C>G , CM000673.1:g.67800720C>G	GRCh37
NC_000011.8:g.67557296C>G	NCBI36
NG_017040.1:g.7637C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.342C>G MANE Select	ENSP00000315774.5:p.Cys114Trp
ENST00000313468.9:c.342C>G	ENSP00000315774.5:p.Cys114Trp
ENST00000432321.6:n.459C>G
ENST00000453471.6:c.342C>G	ENSP00000403972.2:p.Cys114Trp
ENST00000524810.5:c.113C>G
ENST00000525419.5:c.288C>G	ENSP00000433521.1:p.Cys96Trp
ENST00000526339.5:c.342C>G	ENSP00000436287.1:p.Cys114Trp
ENST00000526446.5:c.*397C>G	ENSP00000433645.1:n.*397C>G
ENST00000528492.1:c.-67+2520C>G	ENSP00000432848.1:n.-67+2520C>G
ENST00000529645.1:c.520C>G	ENSP00000431293.1:n.520C>G
ENST00000532399.1:n.1047C>G
NM_002496.3:c.342C>G	NP_002487.1:p.Cys114Trp
XM_005274013.1:c.342C>G	XP_005274070.1:p.Cys114Trp
XM_005274014.1:c.342C>G	XP_005274071.1:p.Cys114Trp
XM_005274015.1:c.222C>G	XP_005274072.1:p.Cys74Trp
XM_011545053.1:c.342C>G	XP_011543355.1:p.Cys114Trp
NM_002496.4:c.342C>G MANE Select	NP_002487.1:p.Cys114Trp