Canonical Allele Identifier: CA359719847

Gene: NDUFS4

Linked Data

• ClinVar Variation Id: 2847065
• ClinVar RCV Id: RCV003690608
• MyVariant Identifiers: chr5:g.52942205G>A (hg19) ; chr5:g.53646375G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646375G>A , CM000667.2:g.53646375G>A	GRCh38
NC_000005.9:g.52942205G>A , CM000667.1:g.52942205G>A	GRCh37
NC_000005.8:g.52977962G>A	NCBI36
NG_008200.1:g.90741G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000296684.10:c.320G>A MANE Select	ENSP00000296684.5:p.Trp107Ter
ENST00000296684.9:c.320G>A	ENSP00000296684.5:p.Trp107Ter
ENST00000502423.5:c.*187G>A	ENSP00000422177.1:n.*187G>A
ENST00000506765.1:c.308G>A	ENSP00000424570.1:p.Trp103Ter
ENST00000506974.5:c.*96G>A	ENSP00000425967.1:n.*96G>A
ENST00000507026.5:c.*294G>A	ENSP00000424993.1:n.*294G>A
ENST00000509443.1:n.181G>A
NM_002495.2:c.320G>A	NP_002486.1:p.Trp107Ter
XM_005248525.3:c.320G>A	XP_005248582.1:p.Trp107Ter
XM_011543415.1:c.146G>A	XP_011541717.1:p.Trp49Ter
NM_001318051.1:c.320G>A	NP_001304980.1:p.Trp107Ter
NM_002495.3:c.320G>A	NP_002486.1:p.Trp107Ter
NR_134473.1:n.522G>A
NR_134474.1:n.439G>A
NR_134475.1:n.474G>A
NM_002495.4:c.320G>A MANE Select	NP_002486.1:p.Trp107Ter
NM_001318051.2:c.320G>A	NP_001304980.1:p.Trp107Ter
NR_134473.2:n.516G>A
NR_134474.2:n.433G>A
NR_134475.2:n.468G>A