Canonical Allele Identifier: CA359719898
Community Standard Title: NM_002495.4(NDUFS4):c.342G>A (p.Trp114Ter)
Gene: NDUFS4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.53646397G>A , CM000667.2:g.53646397G>A GRCh38
NC_000005.9:g.52942227G>A , CM000667.1:g.52942227G>A GRCh37
NC_000005.8:g.52977984G>A NCBI36
NG_008200.1:g.90763G>A

Transcript Alleles

HGVS Amino-acid Change
NM_002495.4:c.342G>A MANE Select NP_002486.1:p.Trp114Ter
ENST00000296684.10:c.342G>A MANE Select ENSP00000296684.5:p.Trp114Ter
NM_001318051.1:c.342G>A NP_001304980.1:p.Trp114Ter
NM_001318051.2:c.342G>A NP_001304980.1:p.Trp114Ter
NM_002495.2:c.342G>A NP_002486.1:p.Trp114Ter
NM_002495.3:c.342G>A NP_002486.1:p.Trp114Ter
NR_134473.1:n.544G>A
NR_134473.2:n.538G>A
NR_134474.1:n.461G>A
NR_134474.2:n.455G>A
NR_134475.1:n.496G>A
NR_134475.2:n.490G>A
ENST00000296684.9:c.342G>A ENSP00000296684.5:p.Trp114Ter
ENST00000502423.5:c.*209G>A ENSP00000422177.1:n.*209G>A
ENST00000506765.1:c.330G>A ENSP00000424570.1:p.Trp110Ter
ENST00000506974.5:c.*118G>A ENSP00000425967.1:n.*118G>A
ENST00000507026.5:c.*316G>A ENSP00000424993.1:n.*316G>A
ENST00000509443.1:n.203G>A
XM_005248525.3:c.342G>A XP_005248582.1:p.Trp114Ter
XM_011543415.1:c.168G>A XP_011541717.1:p.Trp56Ter