Canonical Allele Identifier: CA359719775

Gene: NDUFS4

Linked Data

• MyVariant Identifiers: chr5:g.52942175G>T (hg19) ; chr5:g.53646345G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646345G>T , CM000667.2:g.53646345G>T	GRCh38
NC_000005.9:g.52942175G>T , CM000667.1:g.52942175G>T	GRCh37
NC_000005.8:g.52977932G>T	NCBI36
NG_008200.1:g.90711G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.290G>T MANE Select	ENSP00000296684.5:p.Trp97Leu
ENST00000296684.9:c.290G>T	ENSP00000296684.5:p.Trp97Leu
ENST00000502423.5:c.*157G>T	ENSP00000422177.1:n.*157G>T
ENST00000506765.1:c.278G>T	ENSP00000424570.1:p.Trp93Leu
ENST00000506974.5:c.*66G>T	ENSP00000425967.1:n.*66G>T
ENST00000507026.5:c.*264G>T	ENSP00000424993.1:n.*264G>T
ENST00000509443.1:n.151G>T
NM_002495.2:c.290G>T	NP_002486.1:p.Trp97Leu
XM_005248525.3:c.290G>T	XP_005248582.1:p.Trp97Leu
XM_011543415.1:c.116G>T	XP_011541717.1:p.Trp39Leu
NM_001318051.1:c.290G>T	NP_001304980.1:p.Trp97Leu
NM_002495.3:c.290G>T	NP_002486.1:p.Trp97Leu
NR_134473.1:n.492G>T
NR_134474.1:n.409G>T
NR_134475.1:n.444G>T
NM_002495.4:c.290G>T MANE Select	NP_002486.1:p.Trp97Leu
NM_001318051.2:c.290G>T	NP_001304980.1:p.Trp97Leu
NR_134473.2:n.486G>T
NR_134474.2:n.403G>T
NR_134475.2:n.438G>T