Canonical Allele Identifier: CA359719849

Gene: NDUFS4

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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