Canonical Allele Identifier: CA381569172

Gene: NDUFS8

Linked Data

• ClinVar Variation Id: 488561
• ClinVar RCV Id: RCV000578254 ; RCV001815416
• dbSNP Id: rs1267554976
• MyVariant Identifiers: chr11:g.67803788G>C (hg19) ; chr11:g.68036321G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68036321G>C , CM000673.2:g.68036321G>C	GRCh38
NC_000011.9:g.67803788G>C , CM000673.1:g.67803788G>C	GRCh37
NC_000011.8:g.67560364G>C	NCBI36
NG_007878.1:g.2306G>C , LRG_115:g.2306G>C
NG_017040.1:g.10705G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.441G>C MANE Select	ENSP00000315774.5:p.Met147Ile
ENST00000313468.9:c.441G>C	ENSP00000315774.5:p.Met147Ile
ENST00000524810.5:c.373G>C
ENST00000525419.5:c.387G>C	ENSP00000433521.1:p.Met129Ile
ENST00000526339.5:c.441G>C	ENSP00000436287.1:p.Met147Ile
ENST00000526446.5:c.*496G>C	ENSP00000433645.1:n.*496G>C
ENST00000528492.1:c.3G>C	ENSP00000432848.1:p.Met1Ile
ENST00000531282.1:n.293G>C
NM_002496.3:c.441G>C	NP_002487.1:p.Met147Ile
XM_005274013.1:c.441G>C	XP_005274070.1:p.Met147Ile
XM_005274014.1:c.441G>C	XP_005274071.1:p.Met147Ile
XM_005274015.1:c.321G>C	XP_005274072.1:p.Met107Ile
XM_011545053.1:c.441G>C	XP_011543355.1:p.Met147Ile
NM_002496.4:c.441G>C MANE Select	NP_002487.1:p.Met147Ile