Canonical Allele Identifier: CA475513459

Gene: NDUFS8

Linked Data

• dbSNP Id: rs1232360804
• gnomAD v2: 11-67800606-C-T
• gnomAD v3: 11-68033139-C-T
• gnomAD v4: 11-68033139-C-T
• MyVariant Identifiers: chr11:g.67800606C>T (hg19) ; chr11:g.68033139C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68033139C>T , CM000673.2:g.68033139C>T	GRCh38
NC_000011.9:g.67800606C>T , CM000673.1:g.67800606C>T	GRCh37
NC_000011.8:g.67557182C>T	NCBI36
NG_017040.1:g.7523C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.228C>T MANE Select	ENSP00000315774.5:p.Phe76=
ENST00000313468.9:c.228C>T	ENSP00000315774.5:p.Phe76=
ENST00000432321.6:n.345C>T
ENST00000453471.6:c.228C>T	ENSP00000403972.2:p.Phe76=
ENST00000525419.5:c.174C>T	ENSP00000433521.1:p.Phe58=
ENST00000525628.1:c.228C>T	ENSP00000432968.1:p.Phe76=
ENST00000526339.5:c.228C>T	ENSP00000436287.1:p.Phe76=
ENST00000526446.5:c.*283C>T	ENSP00000433645.1:n.*283C>T
ENST00000528492.1:c.-67+2406C>T	ENSP00000432848.1:n.-67+2406C>T
ENST00000529645.1:c.406C>T	ENSP00000431293.1:n.406C>T
ENST00000531228.1:c.*70C>T	ENSP00000433054.1:n.*70C>T
ENST00000532399.1:n.933C>T
NM_002496.3:c.228C>T	NP_002487.1:p.Phe76=
XM_005274013.1:c.228C>T	XP_005274070.1:p.Phe76=
XM_005274014.1:c.228C>T	XP_005274071.1:p.Phe76=
XM_005274015.1:c.108C>T	XP_005274072.1:p.Phe36=
XM_011545053.1:c.228C>T	XP_011543355.1:p.Phe76=
NM_002496.4:c.228C>T MANE Select	NP_002487.1:p.Phe76=