Canonical Allele Identifier: CA381568701

Gene: NDUFS8

Linked Data

• dbSNP Id: rs1474187064
• gnomAD v2: 11-67803729-A-T
• gnomAD v4: 11-68036262-A-T
• MyVariant Identifiers: chr11:g.67803729A>T (hg19) ; chr11:g.68036262A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68036262A>T , CM000673.2:g.68036262A>T	GRCh38
NC_000011.9:g.67803729A>T , CM000673.1:g.67803729A>T	GRCh37
NC_000011.8:g.67560305A>T	NCBI36
NG_007878.1:g.2247A>T , LRG_115:g.2247A>T
NG_017040.1:g.10646A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.382A>T MANE Select	ENSP00000315774.5:p.Ile128Phe
ENST00000313468.9:c.382A>T	ENSP00000315774.5:p.Ile128Phe
ENST00000524810.5:c.314A>T
ENST00000525419.5:c.328A>T	ENSP00000433521.1:p.Ile110Phe
ENST00000526339.5:c.382A>T	ENSP00000436287.1:p.Ile128Phe
ENST00000526446.5:c.*437A>T	ENSP00000433645.1:n.*437A>T
ENST00000526542.1:n.333A>T
ENST00000528492.1:c.-57A>T	ENSP00000432848.1:n.-57A>T
ENST00000531282.1:n.234A>T
NM_002496.3:c.382A>T	NP_002487.1:p.Ile128Phe
XM_005274013.1:c.382A>T	XP_005274070.1:p.Ile128Phe
XM_005274014.1:c.382A>T	XP_005274071.1:p.Ile128Phe
XM_005274015.1:c.262A>T	XP_005274072.1:p.Ile88Phe
XM_011545053.1:c.382A>T	XP_011543355.1:p.Ile128Phe
NM_002496.4:c.382A>T MANE Select	NP_002487.1:p.Ile128Phe