Canonical Allele Identifier: CA359719224

Gene: NDUFS4

Linked Data

• MyVariant Identifiers: chr5:g.52954433G>T (hg19) ; chr5:g.53658603G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658603G>T , CM000667.2:g.53658603G>T	GRCh38
NC_000005.9:g.52954433G>T , CM000667.1:g.52954433G>T	GRCh37
NC_000005.8:g.52990190G>T	NCBI36
NG_008200.1:g.102969G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.403G>T MANE Select	ENSP00000296684.5:p.Val135Phe
ENST00000296684.9:c.403G>T	ENSP00000296684.5:p.Val135Phe
ENST00000502423.5:c.*270G>T	ENSP00000422177.1:n.*270G>T
ENST00000506765.1:c.338+12198G>T	ENSP00000424570.1:n.338+12198G>T
ENST00000506974.5:c.*179G>T	ENSP00000425967.1:n.*179G>T
ENST00000507026.5:c.*377G>T	ENSP00000424993.1:n.*377G>T
ENST00000509443.1:n.264G>T
NM_002495.2:c.403G>T	NP_002486.1:p.Val135Phe
XM_005248525.3:c.350+12198G>T	XP_005248582.1:n.350+12198G>T
XM_011543415.1:c.229G>T	XP_011541717.1:p.Val77Phe
NM_001318051.1:c.350+12198G>T	NP_001304980.1:n.350+12198G>T
NM_002495.3:c.403G>T	NP_002486.1:p.Val135Phe
NR_134473.1:n.605G>T
NR_134474.1:n.522G>T
NR_134475.1:n.557G>T
NM_002495.4:c.403G>T MANE Select	NP_002486.1:p.Val135Phe
NM_001318051.2:c.350+12198G>T	NP_001304980.1:n.350+12198G>T
NR_134473.2:n.599G>T
NR_134474.2:n.516G>T
NR_134475.2:n.551G>T