Canonical Allele Identifier: CA16606993

Gene: NDUFS8

Linked Data

• ClinVar Variation Id: 386356
• ClinVar RCV Id: RCV000431345
• dbSNP Id: rs1057522484
• gnomAD v4: 11-68036536-G-T
• MyVariant Identifiers: chr11:g.67804003G>T (hg19) ; chr11:g.68036536G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68036536G>T , CM000673.2:g.68036536G>T	GRCh38
NC_000011.9:g.67804003G>T , CM000673.1:g.67804003G>T	GRCh37
NC_000011.8:g.67560579G>T	NCBI36
NG_007878.1:g.2521G>T , LRG_115:g.2521G>T
NG_017040.1:g.10920G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.576G>T MANE Select	ENSP00000315774.5:p.Gly192=
ENST00000313468.9:c.576G>T	ENSP00000315774.5:p.Gly192=
ENST00000524810.5:c.508G>T
ENST00000526446.5:c.*631G>T	ENSP00000433645.1:n.*631G>T
ENST00000528492.1:c.138G>T	ENSP00000432848.1:p.Gly46=
ENST00000531282.1:n.428G>T
NM_002496.3:c.576G>T	NP_002487.1:p.Gly192=
XM_005274013.1:c.576G>T	XP_005274070.1:p.Gly192=
XM_005274014.1:c.576G>T	XP_005274071.1:p.Gly192=
XM_005274015.1:c.456G>T	XP_005274072.1:p.Gly152=
XM_011545053.1:c.576G>T	XP_011543355.1:p.Gly192=
NM_002496.4:c.576G>T MANE Select	NP_002487.1:p.Gly192=