Canonical Allele Identifier: CA224192158

Gene: NDUFS8

Linked Data

• dbSNP Id: rs947727445
• gnomAD v2: 11-67800869-C-T
• gnomAD v3: 11-68033402-C-T
• gnomAD v4: 11-68033402-C-T
• MyVariant Identifiers: chr11:g.67800869C>T (hg19) ; chr11:g.68033402C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68033402C>T , CM000673.2:g.68033402C>T	GRCh38
NC_000011.9:g.67800869C>T , CM000673.1:g.67800869C>T	GRCh37
NC_000011.8:g.67557445C>T	NCBI36
NG_017040.1:g.7786C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.372+119C>T MANE Select	ENSP00000315774.5:n.372+119C>T
ENST00000313468.9:c.372+119C>T	ENSP00000315774.5:n.372+119C>T
ENST00000432321.6:n.608C>T
ENST00000524810.5:c.143+119C>T
ENST00000525419.5:c.318+119C>T	ENSP00000433521.1:n.318+119C>T
ENST00000526339.5:c.372+119C>T	ENSP00000436287.1:n.372+119C>T
ENST00000526446.5:c.*427+119C>T	ENSP00000433645.1:n.*427+119C>T
ENST00000528492.1:c.-67+2669C>T	ENSP00000432848.1:n.-67+2669C>T
ENST00000529645.1:c.550+119C>T	ENSP00000431293.1:n.550+119C>T
ENST00000532399.1:n.1196C>T
NM_002496.3:c.372+119C>T	NP_002487.1:n.372+119C>T
XM_005274013.1:c.372+119C>T	XP_005274070.1:n.372+119C>T
XM_005274014.1:c.372+119C>T	XP_005274071.1:n.372+119C>T
XM_005274015.1:c.252+119C>T	XP_005274072.1:n.252+119C>T
XM_011545053.1:c.372+119C>T	XP_011543355.1:n.372+119C>T
NM_002496.4:c.372+119C>T MANE Select	NP_002487.1:n.372+119C>T