Canonical Allele Identifier: CA381599982

Gene: NDUFS8

Linked Data

• gnomAD v4: 11-68033208-T-G
• MyVariant Identifiers: chr11:g.67800675T>G (hg19) ; chr11:g.68033208T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68033208T>G , CM000673.2:g.68033208T>G	GRCh38
NC_000011.9:g.67800675T>G , CM000673.1:g.67800675T>G	GRCh37
NC_000011.8:g.67557251T>G	NCBI36
NG_017040.1:g.7592T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.297T>G MANE Select	ENSP00000315774.5:p.His99Gln
ENST00000313468.9:c.297T>G	ENSP00000315774.5:p.His99Gln
ENST00000432321.6:n.414T>G
ENST00000453471.6:c.297T>G	ENSP00000403972.2:p.His99Gln
ENST00000524810.5:c.68T>G
ENST00000525419.5:c.243T>G	ENSP00000433521.1:p.His81Gln
ENST00000525628.1:c.297T>G	ENSP00000432968.1:p.His99Gln
ENST00000526339.5:c.297T>G	ENSP00000436287.1:p.His99Gln
ENST00000526446.5:c.*352T>G	ENSP00000433645.1:n.*352T>G
ENST00000528492.1:c.-67+2475T>G	ENSP00000432848.1:n.-67+2475T>G
ENST00000529645.1:c.475T>G	ENSP00000431293.1:n.475T>G
ENST00000531228.1:c.*139T>G	ENSP00000433054.1:n.*139T>G
ENST00000532399.1:n.1002T>G
NM_002496.3:c.297T>G	NP_002487.1:p.His99Gln
XM_005274013.1:c.297T>G	XP_005274070.1:p.His99Gln
XM_005274014.1:c.297T>G	XP_005274071.1:p.His99Gln
XM_005274015.1:c.177T>G	XP_005274072.1:p.His59Gln
XM_011545053.1:c.297T>G	XP_011543355.1:p.His99Gln
NM_002496.4:c.297T>G MANE Select	NP_002487.1:p.His99Gln