Canonical Allele Identifier: CA475513465

Gene: NDUFS8

Linked Data

• dbSNP Id: rs139408619
• gnomAD v3: 11-68033148-G-C
• gnomAD v4: 11-68033148-G-C
• MyVariant Identifiers: chr11:g.67800615G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68033148G>C , CM000673.2:g.68033148G>C	GRCh38
NC_000011.9:g.67800615G>C , CM000673.1:g.67800615G>C	GRCh37
NC_000011.8:g.67557191G>C	NCBI36
NG_017040.1:g.7532G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.237G>C MANE Select	ENSP00000315774.5:p.Pro79=
ENST00000313468.9:c.237G>C	ENSP00000315774.5:p.Pro79=
ENST00000432321.6:n.354G>C
ENST00000453471.6:c.237G>C	ENSP00000403972.2:p.Pro79=
ENST00000524810.5:c.8G>C
ENST00000525419.5:c.183G>C	ENSP00000433521.1:p.Pro61=
ENST00000525628.1:c.237G>C	ENSP00000432968.1:p.Pro79=
ENST00000526339.5:c.237G>C	ENSP00000436287.1:p.Pro79=
ENST00000526446.5:c.*292G>C	ENSP00000433645.1:n.*292G>C
ENST00000528492.1:c.-67+2415G>C	ENSP00000432848.1:n.-67+2415G>C
ENST00000529645.1:c.415G>C	ENSP00000431293.1:n.415G>C
ENST00000531228.1:c.*79G>C	ENSP00000433054.1:n.*79G>C
ENST00000532399.1:n.942G>C
NM_002496.3:c.237G>C	NP_002487.1:p.Pro79=
XM_005274013.1:c.237G>C	XP_005274070.1:p.Pro79=
XM_005274014.1:c.237G>C	XP_005274071.1:p.Pro79=
XM_005274015.1:c.117G>C	XP_005274072.1:p.Pro39=
XM_011545053.1:c.237G>C	XP_011543355.1:p.Pro79=
NM_002496.4:c.237G>C MANE Select	NP_002487.1:p.Pro79=