Canonical Allele Identifier: CA475513440

Gene: NDUFS8

Linked Data

• ClinVar Variation Id: 2847911
• ClinVar RCV Id: RCV003693009
• dbSNP Id: rs1311356395
• gnomAD v2: 11-67800579-C-T
• gnomAD v4: 11-68033112-C-T
• MyVariant Identifiers: chr11:g.67800579C>T (hg19) ; chr11:g.68033112C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68033112C>T , CM000673.2:g.68033112C>T	GRCh38
NC_000011.9:g.67800579C>T , CM000673.1:g.67800579C>T	GRCh37
NC_000011.8:g.67557155C>T	NCBI36
NG_017040.1:g.7496C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.201C>T MANE Select	ENSP00000315774.5:p.Gly67=
ENST00000313468.9:c.201C>T	ENSP00000315774.5:p.Gly67=
ENST00000432321.6:n.318C>T
ENST00000453471.6:c.201C>T	ENSP00000403972.2:p.Gly67=
ENST00000525419.5:c.147C>T	ENSP00000433521.1:p.Gly49=
ENST00000525628.1:c.201C>T	ENSP00000432968.1:p.Gly67=
ENST00000526339.5:c.201C>T	ENSP00000436287.1:p.Gly67=
ENST00000526446.5:c.*256C>T	ENSP00000433645.1:n.*256C>T
ENST00000528492.1:c.-67+2379C>T	ENSP00000432848.1:n.-67+2379C>T
ENST00000529645.1:c.379C>T	ENSP00000431293.1:n.379C>T
ENST00000531228.1:c.*43C>T	ENSP00000433054.1:n.*43C>T
ENST00000532399.1:n.906C>T
NM_002496.3:c.201C>T	NP_002487.1:p.Gly67=
XM_005274013.1:c.201C>T	XP_005274070.1:p.Gly67=
XM_005274014.1:c.201C>T	XP_005274071.1:p.Gly67=
XM_005274015.1:c.81C>T	XP_005274072.1:p.Gly27=
XM_011545053.1:c.201C>T	XP_011543355.1:p.Gly67=
NM_002496.4:c.201C>T MANE Select	NP_002487.1:p.Gly67=