Canonical Allele Identifier: CA359719195

Gene: NDUFS4

Linked Data

• MyVariant Identifiers: chr5:g.52954421A>C (hg19) ; chr5:g.53658591A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658591A>C , CM000667.2:g.53658591A>C	GRCh38
NC_000005.9:g.52954421A>C , CM000667.1:g.52954421A>C	GRCh37
NC_000005.8:g.52990178A>C	NCBI36
NG_008200.1:g.102957A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.391A>C MANE Select	ENSP00000296684.5:p.Lys131Gln
ENST00000296684.9:c.391A>C	ENSP00000296684.5:p.Lys131Gln
ENST00000502423.5:c.*258A>C	ENSP00000422177.1:n.*258A>C
ENST00000506765.1:c.338+12186A>C	ENSP00000424570.1:n.338+12186A>C
ENST00000506974.5:c.*167A>C	ENSP00000425967.1:n.*167A>C
ENST00000507026.5:c.*365A>C	ENSP00000424993.1:n.*365A>C
ENST00000509443.1:n.252A>C
NM_002495.2:c.391A>C	NP_002486.1:p.Lys131Gln
XM_005248525.3:c.350+12186A>C	XP_005248582.1:n.350+12186A>C
XM_011543415.1:c.217A>C	XP_011541717.1:p.Lys73Gln
NM_001318051.1:c.350+12186A>C	NP_001304980.1:n.350+12186A>C
NM_002495.3:c.391A>C	NP_002486.1:p.Lys131Gln
NR_134473.1:n.593A>C
NR_134474.1:n.510A>C
NR_134475.1:n.545A>C
NM_002495.4:c.391A>C MANE Select	NP_002486.1:p.Lys131Gln
NM_001318051.2:c.350+12186A>C	NP_001304980.1:n.350+12186A>C
NR_134473.2:n.587A>C
NR_134474.2:n.504A>C
NR_134475.2:n.539A>C