Canonical Allele Identifier: CA939089163

Gene: NDUFS8

Linked Data

• dbSNP Id: rs1854803080
• gnomAD v3: 11-68033050-GT-G
• gnomAD v4: 11-68033050-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68033051del , CM000673.2:g.68033051del	GRCh38
NC_000011.9:g.67800518del , CM000673.1:g.67800518del	GRCh37
NC_000011.8:g.67557094del	NCBI36
NG_017040.1:g.7435del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.199+39del MANE Select	ENSP00000315774.5:n.199+39del
ENST00000313468.9:c.199+39del	ENSP00000315774.5:n.199+39del
ENST00000432321.6:n.316+39del
ENST00000453471.6:c.199+39del	ENSP00000403972.2:n.199+39del
ENST00000525419.5:c.145+39del	ENSP00000433521.1:n.145+39del
ENST00000525628.1:c.199+39del	ENSP00000432968.1:n.199+39del
ENST00000526339.5:c.199+39del	ENSP00000436287.1:n.199+39del
ENST00000526446.5:c.*254+39del	ENSP00000433645.1:n.*254+39del
ENST00000528492.1:c.-67+2318del	ENSP00000432848.1:n.-67+2318del
ENST00000529645.1:c.377+39del	ENSP00000431293.1:n.377+39del
ENST00000531228.1:c.*41+39del	ENSP00000433054.1:n.*41+39del
ENST00000532399.1:n.845del
NM_002496.3:c.199+39del	NP_002487.1:n.199+39del
XM_005274013.1:c.199+39del	XP_005274070.1:n.199+39del
XM_005274014.1:c.199+39del	XP_005274071.1:n.199+39del
XM_005274015.1:c.79+39del	XP_005274072.1:n.79+39del
XM_011545053.1:c.199+39del	XP_011543355.1:n.199+39del
NM_002496.4:c.199+39del MANE Select	NP_002487.1:n.199+39del