Canonical Allele Identifier: CA6146408

Gene: NDUFS8

Linked Data

• dbSNP Id: rs147808886
• ExAC: 11:67800521 G / A
• gnomAD v2: 11-67800521-G-A
• gnomAD v3: 11-68033054-G-A
• gnomAD v4: 11-68033054-G-A
• MyVariant Identifiers: chr11:g.67800521G>A (hg19) ; chr11:g.68033054G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68033054G>A , CM000673.2:g.68033054G>A	GRCh38
NC_000011.9:g.67800521G>A , CM000673.1:g.67800521G>A	GRCh37
NC_000011.8:g.67557097G>A	NCBI36
NG_017040.1:g.7438G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.199+42G>A MANE Select	ENSP00000315774.5:n.199+42G>A
ENST00000313468.9:c.199+42G>A	ENSP00000315774.5:n.199+42G>A
ENST00000432321.6:n.316+42G>A
ENST00000453471.6:c.199+42G>A	ENSP00000403972.2:n.199+42G>A
ENST00000525419.5:c.145+42G>A	ENSP00000433521.1:n.145+42G>A
ENST00000525628.1:c.199+42G>A	ENSP00000432968.1:n.199+42G>A
ENST00000526339.5:c.199+42G>A	ENSP00000436287.1:n.199+42G>A
ENST00000526446.5:c.*254+42G>A	ENSP00000433645.1:n.*254+42G>A
ENST00000528492.1:c.-67+2321G>A	ENSP00000432848.1:n.-67+2321G>A
ENST00000529645.1:c.377+42G>A	ENSP00000431293.1:n.377+42G>A
ENST00000531228.1:c.*41+42G>A	ENSP00000433054.1:n.*41+42G>A
ENST00000532399.1:n.848G>A
NM_002496.3:c.199+42G>A	NP_002487.1:n.199+42G>A
XM_005274013.1:c.199+42G>A	XP_005274070.1:n.199+42G>A
XM_005274014.1:c.199+42G>A	XP_005274071.1:n.199+42G>A
XM_005274015.1:c.79+42G>A	XP_005274072.1:n.79+42G>A
XM_011545053.1:c.199+42G>A	XP_011543355.1:n.199+42G>A
NM_002496.4:c.199+42G>A MANE Select	NP_002487.1:n.199+42G>A