Canonical Allele Identifier: CA381599963

Gene: NDUFS8

Linked Data

• dbSNP Id: rs1854806769
• gnomAD v4: 11-68033206-C-A
• MyVariant Identifiers: chr11:g.67800673C>A (hg19) ; chr11:g.68033206C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68033206C>A , CM000673.2:g.68033206C>A	GRCh38
NC_000011.9:g.67800673C>A , CM000673.1:g.67800673C>A	GRCh37
NC_000011.8:g.67557249C>A	NCBI36
NG_017040.1:g.7590C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.295C>A MANE Select	ENSP00000315774.5:p.His99Asn
ENST00000313468.9:c.295C>A	ENSP00000315774.5:p.His99Asn
ENST00000432321.6:n.412C>A
ENST00000453471.6:c.295C>A	ENSP00000403972.2:p.His99Asn
ENST00000524810.5:c.66C>A
ENST00000525419.5:c.241C>A	ENSP00000433521.1:p.His81Asn
ENST00000525628.1:c.295C>A	ENSP00000432968.1:p.His99Asn
ENST00000526339.5:c.295C>A	ENSP00000436287.1:p.His99Asn
ENST00000526446.5:c.*350C>A	ENSP00000433645.1:n.*350C>A
ENST00000528492.1:c.-67+2473C>A	ENSP00000432848.1:n.-67+2473C>A
ENST00000529645.1:c.473C>A	ENSP00000431293.1:n.473C>A
ENST00000531228.1:c.*137C>A	ENSP00000433054.1:n.*137C>A
ENST00000532399.1:n.1000C>A
NM_002496.3:c.295C>A	NP_002487.1:p.His99Asn
XM_005274013.1:c.295C>A	XP_005274070.1:p.His99Asn
XM_005274014.1:c.295C>A	XP_005274071.1:p.His99Asn
XM_005274015.1:c.175C>A	XP_005274072.1:p.His59Asn
XM_011545053.1:c.295C>A	XP_011543355.1:p.His99Asn
NM_002496.4:c.295C>A MANE Select	NP_002487.1:p.His99Asn