Canonical Allele Identifier: CA359719850

Gene: NDUFS4

Linked Data

• MyVariant Identifiers: chr5:g.52942206G>T (hg19) ; chr5:g.53646376G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646376G>T , CM000667.2:g.53646376G>T	GRCh38
NC_000005.9:g.52942206G>T , CM000667.1:g.52942206G>T	GRCh37
NC_000005.8:g.52977963G>T	NCBI36
NG_008200.1:g.90742G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000296684.10:c.321G>T MANE Select	ENSP00000296684.5:p.Trp107Cys
ENST00000296684.9:c.321G>T	ENSP00000296684.5:p.Trp107Cys
ENST00000502423.5:c.*188G>T	ENSP00000422177.1:n.*188G>T
ENST00000506765.1:c.309G>T	ENSP00000424570.1:p.Trp103Cys
ENST00000506974.5:c.*97G>T	ENSP00000425967.1:n.*97G>T
ENST00000507026.5:c.*295G>T	ENSP00000424993.1:n.*295G>T
ENST00000509443.1:n.182G>T
NM_002495.2:c.321G>T	NP_002486.1:p.Trp107Cys
XM_005248525.3:c.321G>T	XP_005248582.1:p.Trp107Cys
XM_011543415.1:c.147G>T	XP_011541717.1:p.Trp49Cys
NM_001318051.1:c.321G>T	NP_001304980.1:p.Trp107Cys
NM_002495.3:c.321G>T	NP_002486.1:p.Trp107Cys
NR_134473.1:n.523G>T
NR_134474.1:n.440G>T
NR_134475.1:n.475G>T
NM_002495.4:c.321G>T MANE Select	NP_002486.1:p.Trp107Cys
NM_001318051.2:c.321G>T	NP_001304980.1:p.Trp107Cys
NR_134473.2:n.517G>T
NR_134474.2:n.434G>T
NR_134475.2:n.469G>T