Canonical Allele Identifier: CA6146423

Gene: NDUFS8

Linked Data

• ClinVar Variation Id: 387078
• ClinVar RCV Id: RCV000435423 ; RCV002059726
• dbSNP Id: rs550258755
• ExAC: 11:67800570 G / T
• gnomAD v2: 11-67800570-G-T
• gnomAD v3: 11-68033103-G-T
• gnomAD v4: 11-68033103-G-T
• MyVariant Identifiers: chr11:g.67800570G>T (hg19) ; chr11:g.68033103G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68033103G>T , CM000673.2:g.68033103G>T	GRCh38
NC_000011.9:g.67800570G>T , CM000673.1:g.67800570G>T	GRCh37
NC_000011.8:g.67557146G>T	NCBI36
NG_017040.1:g.7487G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.200-8G>T MANE Select	ENSP00000315774.5:n.200-8G>T
ENST00000313468.9:c.200-8G>T	ENSP00000315774.5:n.200-8G>T
ENST00000432321.6:n.317-8G>T
ENST00000453471.6:c.200-8G>T	ENSP00000403972.2:n.200-8G>T
ENST00000525419.5:c.146-8G>T	ENSP00000433521.1:n.146-8G>T
ENST00000525628.1:c.200-8G>T	ENSP00000432968.1:n.200-8G>T
ENST00000526339.5:c.200-8G>T	ENSP00000436287.1:n.200-8G>T
ENST00000526446.5:c.*255-8G>T	ENSP00000433645.1:n.*255-8G>T
ENST00000528492.1:c.-67+2370G>T	ENSP00000432848.1:n.-67+2370G>T
ENST00000529645.1:c.378-8G>T	ENSP00000431293.1:n.378-8G>T
ENST00000531228.1:c.*42-8G>T	ENSP00000433054.1:n.*42-8G>T
ENST00000532399.1:n.897G>T
NM_002496.3:c.200-8G>T	NP_002487.1:n.200-8G>T
XM_005274013.1:c.200-8G>T	XP_005274070.1:n.200-8G>T
XM_005274014.1:c.200-8G>T	XP_005274071.1:n.200-8G>T
XM_005274015.1:c.80-8G>T	XP_005274072.1:n.80-8G>T
XM_011545053.1:c.200-8G>T	XP_011543355.1:n.200-8G>T
NM_002496.4:c.200-8G>T MANE Select	NP_002487.1:n.200-8G>T