Canonical Allele Identifier: CA381567475

Gene: NDUFS8

Linked Data

• ClinVar Variation Id: 2434095
• ClinVar RCV Id: RCV003142644 ; RCV003269547
• dbSNP Id: rs372851104
• gnomAD v2: 11-67800745-G-T
• gnomAD v4: 11-68033278-G-T
• MyVariant Identifiers: chr11:g.67800745G>T (hg19) ; chr11:g.68033278G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68033278G>T , CM000673.2:g.68033278G>T	GRCh38
NC_000011.9:g.67800745G>T , CM000673.1:g.67800745G>T	GRCh37
NC_000011.8:g.67557321G>T	NCBI36
NG_017040.1:g.7662G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.367G>T MANE Select	ENSP00000315774.5:p.Ala123Ser
ENST00000313468.9:c.367G>T	ENSP00000315774.5:p.Ala123Ser
ENST00000432321.6:n.484G>T
ENST00000453471.6:c.367G>T	ENSP00000403972.2:p.Ala123Ser
ENST00000524810.5:c.138G>T
ENST00000525419.5:c.313G>T	ENSP00000433521.1:p.Ala105Ser
ENST00000526339.5:c.367G>T	ENSP00000436287.1:p.Ala123Ser
ENST00000526446.5:c.*422G>T	ENSP00000433645.1:n.*422G>T
ENST00000528492.1:c.-67+2545G>T	ENSP00000432848.1:n.-67+2545G>T
ENST00000529645.1:c.545G>T	ENSP00000431293.1:n.545G>T
ENST00000532399.1:n.1072G>T
NM_002496.3:c.367G>T	NP_002487.1:p.Ala123Ser
XM_005274013.1:c.367G>T	XP_005274070.1:p.Ala123Ser
XM_005274014.1:c.367G>T	XP_005274071.1:p.Ala123Ser
XM_005274015.1:c.247G>T	XP_005274072.1:p.Ala83Ser
XM_011545053.1:c.367G>T	XP_011543355.1:p.Ala123Ser
NM_002496.4:c.367G>T MANE Select	NP_002487.1:p.Ala123Ser