Canonical Allele Identifier: CA2552158329

Gene: NDUFS4

Linked Data

• gnomAD v4: 5-53658771-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658771G>T , CM000667.2:g.53658771G>T	GRCh38
NC_000005.9:g.52954601G>T , CM000667.1:g.52954601G>T	GRCh37
NC_000005.8:g.52990358G>T	NCBI36
NG_008200.1:g.103137G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.424+147G>T MANE Select	ENSP00000296684.5:n.424+147G>T
ENST00000296684.9:c.424+147G>T	ENSP00000296684.5:n.424+147G>T
ENST00000502423.5:c.*291+147G>T	ENSP00000422177.1:n.*291+147G>T
ENST00000506765.1:c.338+12366G>T	ENSP00000424570.1:n.338+12366G>T
ENST00000506974.5:c.*200+147G>T	ENSP00000425967.1:n.*200+147G>T
ENST00000507026.5:c.*398+147G>T	ENSP00000424993.1:n.*398+147G>T
ENST00000509443.1:n.432G>T
NM_002495.2:c.424+147G>T	NP_002486.1:n.424+147G>T
XM_005248525.3:c.350+12366G>T	XP_005248582.1:n.350+12366G>T
XM_011543415.1:c.250+147G>T	XP_011541717.1:n.250+147G>T
NM_001318051.1:c.350+12366G>T	NP_001304980.1:n.350+12366G>T
NM_002495.3:c.424+147G>T	NP_002486.1:n.424+147G>T
NR_134473.1:n.626+147G>T
NR_134474.1:n.543+147G>T
NR_134475.1:n.578+147G>T
NM_002495.4:c.424+147G>T MANE Select	NP_002486.1:n.424+147G>T
NM_001318051.2:c.350+12366G>T	NP_001304980.1:n.350+12366G>T
NR_134473.2:n.620+147G>T
NR_134474.2:n.537+147G>T
NR_134475.2:n.572+147G>T