Canonical Allele Identifier: CA381567381

Gene: NDUFS8

Linked Data

• ClinVar Variation Id: 1302698
• ClinVar RCV Id: RCV001762765
• dbSNP Id: rs2134414582
• gnomAD v4: 11-68033258-T-C
• MyVariant Identifiers: chr11:g.67800725T>C (hg19) ; chr11:g.68033258T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68033258T>C , CM000673.2:g.68033258T>C	GRCh38
NC_000011.9:g.67800725T>C , CM000673.1:g.67800725T>C	GRCh37
NC_000011.8:g.67557301T>C	NCBI36
NG_017040.1:g.7642T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.347T>C MANE Select	ENSP00000315774.5:p.Leu116Pro
ENST00000313468.9:c.347T>C	ENSP00000315774.5:p.Leu116Pro
ENST00000432321.6:n.464T>C
ENST00000453471.6:c.347T>C	ENSP00000403972.2:p.Leu116Pro
ENST00000524810.5:c.118T>C
ENST00000525419.5:c.293T>C	ENSP00000433521.1:p.Leu98Pro
ENST00000526339.5:c.347T>C	ENSP00000436287.1:p.Leu116Pro
ENST00000526446.5:c.*402T>C	ENSP00000433645.1:n.*402T>C
ENST00000528492.1:c.-67+2525T>C	ENSP00000432848.1:n.-67+2525T>C
ENST00000529645.1:c.525T>C	ENSP00000431293.1:n.525T>C
ENST00000532399.1:n.1052T>C
NM_002496.3:c.347T>C	NP_002487.1:p.Leu116Pro
XM_005274013.1:c.347T>C	XP_005274070.1:p.Leu116Pro
XM_005274014.1:c.347T>C	XP_005274071.1:p.Leu116Pro
XM_005274015.1:c.227T>C	XP_005274072.1:p.Leu76Pro
XM_011545053.1:c.347T>C	XP_011543355.1:p.Leu116Pro
NM_002496.4:c.347T>C MANE Select	NP_002487.1:p.Leu116Pro