Canonical Allele Identifier: CA224195292

Gene: NDUFS8

Linked Data

• ClinVar Variation Id: 2402276
• ClinVar RCV Id: RCV002764002
• dbSNP Id: rs999803670
• gnomAD v2: 11-67804055-C-T
• gnomAD v4: 11-68036588-C-T
• MyVariant Identifiers: chr11:g.67804055C>T (hg19) ; chr11:g.68036588C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68036588C>T , CM000673.2:g.68036588C>T	GRCh38
NC_000011.9:g.67804055C>T , CM000673.1:g.67804055C>T	GRCh37
NC_000011.8:g.67560631C>T	NCBI36
NG_007878.1:g.2573C>T , LRG_115:g.2573C>T
NG_017040.1:g.10972C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.628C>T MANE Select	ENSP00000315774.5:p.Arg210Trp
ENST00000313468.9:c.628C>T	ENSP00000315774.5:p.Arg210Trp
ENST00000524810.5:c.560C>T
ENST00000528492.1:c.190C>T	ENSP00000432848.1:p.Arg64Trp
ENST00000531282.1:n.480C>T
NM_002496.3:c.628C>T	NP_002487.1:p.Arg210Trp
XM_005274013.1:c.628C>T	XP_005274070.1:p.Arg210Trp
XM_005274014.1:c.628C>T	XP_005274071.1:p.Arg210Trp
XM_005274015.1:c.508C>T	XP_005274072.1:p.Arg170Trp
XM_011545053.1:c.628C>T	XP_011543355.1:p.Arg210Trp
NM_002496.4:c.628C>T MANE Select	NP_002487.1:p.Arg210Trp