Canonical Allele Identifier: CA1076116107

Gene: NDUFS4

Linked Data

• dbSNP Id: rs1751862636
• gnomAD v3: 5-53646333-AC-A
• gnomAD v4: 5-53646333-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646334del , CM000667.2:g.53646334del	GRCh38
NC_000005.9:g.52942164del , CM000667.1:g.52942164del	GRCh37
NC_000005.8:g.52977921del	NCBI36
NG_008200.1:g.90700del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.279del MANE Select	ENSP00000296684.5:p.Asn93LysfsTer19
ENST00000296684.9:c.279del	ENSP00000296684.5:p.Asn93LysfsTer19
ENST00000502423.5:c.*146del	ENSP00000422177.1:n.*146del
ENST00000506765.1:c.267del	ENSP00000424570.1:p.Asn89LysfsTer19
ENST00000506974.5:c.*55del	ENSP00000425967.1:n.*55del
ENST00000507026.5:c.*253del	ENSP00000424993.1:n.*253del
ENST00000509443.1:n.140del
NM_002495.2:c.279del	NP_002486.1:p.Asn93LysfsTer19
XM_005248525.3:c.279del	XP_005248582.1:p.Asn93LysfsTer19
XM_011543415.1:c.105del	XP_011541717.1:p.Asn35LysfsTer19
NM_001318051.1:c.279del	NP_001304980.1:p.Asn93LysfsTer19
NM_002495.3:c.279del	NP_002486.1:p.Asn93LysfsTer19
NR_134473.1:n.481del
NR_134474.1:n.398del
NR_134475.1:n.433del
NM_002495.4:c.279del MANE Select	NP_002486.1:p.Asn93LysfsTer19
NM_001318051.2:c.279del	NP_001304980.1:p.Asn93LysfsTer19
NR_134473.2:n.475del
NR_134474.2:n.392del
NR_134475.2:n.427del