Canonical Allele Identifier: CA118853

Gene: NDUFS8

Linked Data

• ClinVar Variation Id: 7511
• ClinVar RCV Id: RCV000007941 ; RCV000442702 ; RCV000762861
• dbSNP Id: rs28939679
• ExAC: 11:67800614 C / T
• gnomAD v2: 11-67800614-C-T
• gnomAD v4: 11-68033147-C-T
• MyVariant Identifiers: chr11:g.67800614C>T (hg19) ; chr11:g.68033147C>T (hg38)
• PubMed: PMID:9837812

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68033147C>T , CM000673.2:g.68033147C>T	GRCh38
NC_000011.9:g.67800614C>T , CM000673.1:g.67800614C>T	GRCh37
NC_000011.8:g.67557190C>T	NCBI36
NG_017040.1:g.7531C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000313468.10:c.236C>T MANE Select	ENSP00000315774.5:p.Pro79Leu
ENST00000313468.9:c.236C>T	ENSP00000315774.5:p.Pro79Leu
ENST00000432321.6:n.353C>T
ENST00000453471.6:c.236C>T	ENSP00000403972.2:p.Pro79Leu
ENST00000524810.5:c.7C>T
ENST00000525419.5:c.182C>T	ENSP00000433521.1:p.Pro61Leu
ENST00000525628.1:c.236C>T	ENSP00000432968.1:p.Pro79Leu
ENST00000526339.5:c.236C>T	ENSP00000436287.1:p.Pro79Leu
ENST00000526446.5:c.*291C>T	ENSP00000433645.1:n.*291C>T
ENST00000528492.1:c.-67+2414C>T	ENSP00000432848.1:n.-67+2414C>T
ENST00000529645.1:c.414C>T	ENSP00000431293.1:n.414C>T
ENST00000531228.1:c.*78C>T	ENSP00000433054.1:n.*78C>T
ENST00000532399.1:n.941C>T
NM_002496.3:c.236C>T	NP_002487.1:p.Pro79Leu
XM_005274013.1:c.236C>T	XP_005274070.1:p.Pro79Leu
XM_005274014.1:c.236C>T	XP_005274071.1:p.Pro79Leu
XM_005274015.1:c.116C>T	XP_005274072.1:p.Pro39Leu
XM_011545053.1:c.236C>T	XP_011543355.1:p.Pro79Leu
NM_002496.4:c.236C>T MANE Select	NP_002487.1:p.Pro79Leu