Canonical Allele Identifier: CA6146432

Gene: NDUFS8

Linked Data

• ClinVar Variation Id: 378258
• ClinVar RCV Id: RCV000431887 ; RCV000676967 ; RCV001111479 ; RCV001111480 ; RCV003912624
• dbSNP Id: rs144125742
• ExAC: 11:67800633 G / A
• gnomAD v2: 11-67800633-G-A
• gnomAD v3: 11-68033166-G-A
• gnomAD v4: 11-68033166-G-A
• MyVariant Identifiers: chr11:g.67800633G>A (hg19) ; chr11:g.68033166G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68033166G>A , CM000673.2:g.68033166G>A	GRCh38
NC_000011.9:g.67800633G>A , CM000673.1:g.67800633G>A	GRCh37
NC_000011.8:g.67557209G>A	NCBI36
NG_017040.1:g.7550G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.255G>A MANE Select	ENSP00000315774.5:p.Pro85=
ENST00000313468.9:c.255G>A	ENSP00000315774.5:p.Pro85=
ENST00000432321.6:n.372G>A
ENST00000453471.6:c.255G>A	ENSP00000403972.2:p.Pro85=
ENST00000524810.5:c.26G>A
ENST00000525419.5:c.201G>A	ENSP00000433521.1:p.Pro67=
ENST00000525628.1:c.255G>A	ENSP00000432968.1:p.Pro85=
ENST00000526339.5:c.255G>A	ENSP00000436287.1:p.Pro85=
ENST00000526446.5:c.*310G>A	ENSP00000433645.1:n.*310G>A
ENST00000528492.1:c.-67+2433G>A	ENSP00000432848.1:n.-67+2433G>A
ENST00000529645.1:c.433G>A	ENSP00000431293.1:n.433G>A
ENST00000531228.1:c.*97G>A	ENSP00000433054.1:n.*97G>A
ENST00000532399.1:n.960G>A
NM_002496.3:c.255G>A	NP_002487.1:p.Pro85=
XM_005274013.1:c.255G>A	XP_005274070.1:p.Pro85=
XM_005274014.1:c.255G>A	XP_005274071.1:p.Pro85=
XM_005274015.1:c.135G>A	XP_005274072.1:p.Pro45=
XM_011545053.1:c.255G>A	XP_011543355.1:p.Pro85=
NM_002496.4:c.255G>A MANE Select	NP_002487.1:p.Pro85=