Canonical Allele Identifier: CA381570056

Gene: NDUFS8

Linked Data

• ClinVar Variation Id: 884038
• ClinVar RCV Id: RCV001114883 ; RCV001114884
• dbSNP Id: rs1371377502
• gnomAD v2: 11-67804001-G-A
• gnomAD v3: 11-68036534-G-A
• gnomAD v4: 11-68036534-G-A
• MyVariant Identifiers: chr11:g.67804001G>A (hg19) ; chr11:g.68036534G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68036534G>A , CM000673.2:g.68036534G>A	GRCh38
NC_000011.9:g.67804001G>A , CM000673.1:g.67804001G>A	GRCh37
NC_000011.8:g.67560577G>A	NCBI36
NG_007878.1:g.2519G>A , LRG_115:g.2519G>A
NG_017040.1:g.10918G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.574G>A MANE Select	ENSP00000315774.5:p.Gly192Arg
ENST00000313468.9:c.574G>A	ENSP00000315774.5:p.Gly192Arg
ENST00000524810.5:c.506G>A
ENST00000526446.5:c.*629G>A	ENSP00000433645.1:n.*629G>A
ENST00000528492.1:c.136G>A	ENSP00000432848.1:p.Gly46Arg
ENST00000531282.1:n.426G>A
NM_002496.3:c.574G>A	NP_002487.1:p.Gly192Arg
XM_005274013.1:c.574G>A	XP_005274070.1:p.Gly192Arg
XM_005274014.1:c.574G>A	XP_005274071.1:p.Gly192Arg
XM_005274015.1:c.454G>A	XP_005274072.1:p.Gly152Arg
XM_011545053.1:c.574G>A	XP_011543355.1:p.Gly192Arg
NM_002496.4:c.574G>A MANE Select	NP_002487.1:p.Gly192Arg