Canonical Allele Identifier: CA2673829222

Gene: NDUFS4

Linked Data

• gnomAD v4: 5-53646439-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646440dup , CM000667.2:g.53646440dup	GRCh38
NC_000005.9:g.52942270dup , CM000667.1:g.52942270dup	GRCh37
NC_000005.8:g.52978027dup	NCBI36
NG_008200.1:g.90806dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.350+35dup MANE Select	ENSP00000296684.5:n.350+35dup
ENST00000296684.9:c.350+35dup	ENSP00000296684.5:n.350+35dup
ENST00000502423.5:c.*217+35dup	ENSP00000422177.1:n.*217+35dup
ENST00000506765.1:c.338+35dup	ENSP00000424570.1:n.338+35dup
ENST00000506974.5:c.*126+35dup	ENSP00000425967.1:n.*126+35dup
ENST00000507026.5:c.*324+35dup	ENSP00000424993.1:n.*324+35dup
ENST00000509443.1:n.211+35dup
NM_002495.2:c.350+35dup	NP_002486.1:n.350+35dup
XM_005248525.3:c.350+35dup	XP_005248582.1:n.350+35dup
XM_011543415.1:c.176+35dup	XP_011541717.1:n.176+35dup
NM_001318051.1:c.350+35dup	NP_001304980.1:n.350+35dup
NM_002495.3:c.350+35dup	NP_002486.1:n.350+35dup
NR_134473.1:n.552+35dup
NR_134474.1:n.469+35dup
NR_134475.1:n.504+35dup
NM_002495.4:c.350+35dup MANE Select	NP_002486.1:n.350+35dup
NM_001318051.2:c.350+35dup	NP_001304980.1:n.350+35dup
NR_134473.2:n.546+35dup
NR_134474.2:n.463+35dup
NR_134475.2:n.498+35dup