Canonical Allele Identifier: CA2532993838

Gene: NDUFS4

Linked Data

• gnomAD v4: 5-53658804-A-AC

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658806dup , CM000667.2:g.53658806dup	GRCh38
NC_000005.9:g.52954636dup , CM000667.1:g.52954636dup	GRCh37
NC_000005.8:g.52990393dup	NCBI36
NG_008200.1:g.103172dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.424+182dup MANE Select	ENSP00000296684.5:n.424+182dup
ENST00000296684.9:c.424+182dup	ENSP00000296684.5:n.424+182dup
ENST00000502423.5:c.*291+182dup	ENSP00000422177.1:n.*291+182dup
ENST00000506765.1:c.338+12401dup	ENSP00000424570.1:n.338+12401dup
ENST00000506974.5:c.*200+182dup	ENSP00000425967.1:n.*200+182dup
ENST00000507026.5:c.*398+182dup	ENSP00000424993.1:n.*398+182dup
NM_002495.2:c.424+182dup	NP_002486.1:n.424+182dup
XM_005248525.3:c.350+12401dup	XP_005248582.1:n.350+12401dup
XM_011543415.1:c.250+182dup	XP_011541717.1:n.250+182dup
NM_001318051.1:c.350+12401dup	NP_001304980.1:n.350+12401dup
NM_002495.3:c.424+182dup	NP_002486.1:n.424+182dup
NR_134473.1:n.626+182dup
NR_134474.1:n.543+182dup
NR_134475.1:n.578+182dup
NM_002495.4:c.424+182dup MANE Select	NP_002486.1:n.424+182dup
NM_001318051.2:c.350+12401dup	NP_001304980.1:n.350+12401dup
NR_134473.2:n.620+182dup
NR_134474.2:n.537+182dup
NR_134475.2:n.572+182dup