Canonical Allele Identifier: CA224241550

Gene: NDUFS8

Linked Data

• ClinVar Variation Id: 2038010
• ClinVar RCV Id: RCV002890394
• dbSNP Id: rs142154152
• gnomAD v2: 11-67800594-G-A
• gnomAD v3: 11-68033127-G-A
• gnomAD v4: 11-68033127-G-A
• MyVariant Identifiers: chr11:g.67800594G>A (hg19) ; chr11:g.68033127G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68033127G>A , CM000673.2:g.68033127G>A	GRCh38
NC_000011.9:g.67800594G>A , CM000673.1:g.67800594G>A	GRCh37
NC_000011.8:g.67557170G>A	NCBI36
NG_017040.1:g.7511G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.216G>A MANE Select	ENSP00000315774.5:p.Leu72=
ENST00000313468.9:c.216G>A	ENSP00000315774.5:p.Leu72=
ENST00000432321.6:n.333G>A
ENST00000453471.6:c.216G>A	ENSP00000403972.2:p.Leu72=
ENST00000525419.5:c.162G>A	ENSP00000433521.1:p.Leu54=
ENST00000525628.1:c.216G>A	ENSP00000432968.1:p.Leu72=
ENST00000526339.5:c.216G>A	ENSP00000436287.1:p.Leu72=
ENST00000526446.5:c.*271G>A	ENSP00000433645.1:n.*271G>A
ENST00000528492.1:c.-67+2394G>A	ENSP00000432848.1:n.-67+2394G>A
ENST00000529645.1:c.394G>A	ENSP00000431293.1:n.394G>A
ENST00000531228.1:c.*58G>A	ENSP00000433054.1:n.*58G>A
ENST00000532399.1:n.921G>A
NM_002496.3:c.216G>A	NP_002487.1:p.Leu72=
XM_005274013.1:c.216G>A	XP_005274070.1:p.Leu72=
XM_005274014.1:c.216G>A	XP_005274071.1:p.Leu72=
XM_005274015.1:c.96G>A	XP_005274072.1:p.Leu32=
XM_011545053.1:c.216G>A	XP_011543355.1:p.Leu72=
NM_002496.4:c.216G>A MANE Select	NP_002487.1:p.Leu72=