Canonical Allele Identifier: CA6146438

Gene: NDUFS8

Linked Data

• ClinVar Variation Id: 381394
• ClinVar RCV Id: RCV000910288
• dbSNP Id: rs80240555
• ExAC: 11:67800678 G / A
• gnomAD v2: 11-67800678-G-A
• gnomAD v3: 11-68033211-G-A
• gnomAD v4: 11-68033211-G-A
• MyVariant Identifiers: chr11:g.67800678G>A (hg19) ; chr11:g.68033211G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68033211G>A , CM000673.2:g.68033211G>A	GRCh38
NC_000011.9:g.67800678G>A , CM000673.1:g.67800678G>A	GRCh37
NC_000011.8:g.67557254G>A	NCBI36
NG_017040.1:g.7595G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000313468.10:c.300G>A MANE Select	ENSP00000315774.5:p.Ala100=
ENST00000313468.9:c.300G>A	ENSP00000315774.5:p.Ala100=
ENST00000432321.6:n.417G>A
ENST00000453471.6:c.300G>A	ENSP00000403972.2:p.Ala100=
ENST00000524810.5:c.71G>A
ENST00000525419.5:c.246G>A	ENSP00000433521.1:p.Ala82=
ENST00000525628.1:c.300G>A	ENSP00000432968.1:p.Ala100=
ENST00000526339.5:c.300G>A	ENSP00000436287.1:p.Ala100=
ENST00000526446.5:c.*355G>A	ENSP00000433645.1:n.*355G>A
ENST00000528492.1:c.-67+2478G>A	ENSP00000432848.1:n.-67+2478G>A
ENST00000529645.1:c.478G>A	ENSP00000431293.1:n.478G>A
ENST00000531228.1:c.*142G>A	ENSP00000433054.1:n.*142G>A
ENST00000532399.1:n.1005G>A
NM_002496.3:c.300G>A	NP_002487.1:p.Ala100=
XM_005274013.1:c.300G>A	XP_005274070.1:p.Ala100=
XM_005274014.1:c.300G>A	XP_005274071.1:p.Ala100=
XM_005274015.1:c.180G>A	XP_005274072.1:p.Ala60=
XM_011545053.1:c.300G>A	XP_011543355.1:p.Ala100=
NM_002496.4:c.300G>A MANE Select	NP_002487.1:p.Ala100=