Canonical Allele Identifier: CA359719254

Gene: NDUFS4

Linked Data

• MyVariant Identifiers: chr5:g.52954448A>C (hg19) ; chr5:g.53658618A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658618A>C , CM000667.2:g.53658618A>C	GRCh38
NC_000005.9:g.52954448A>C , CM000667.1:g.52954448A>C	GRCh37
NC_000005.8:g.52990205A>C	NCBI36
NG_008200.1:g.102984A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.418A>C MANE Select	ENSP00000296684.5:p.Lys140Gln
ENST00000296684.9:c.418A>C	ENSP00000296684.5:p.Lys140Gln
ENST00000502423.5:c.*285A>C	ENSP00000422177.1:n.*285A>C
ENST00000506765.1:c.338+12213A>C	ENSP00000424570.1:n.338+12213A>C
ENST00000506974.5:c.*194A>C	ENSP00000425967.1:n.*194A>C
ENST00000507026.5:c.*392A>C	ENSP00000424993.1:n.*392A>C
ENST00000509443.1:n.279A>C
NM_002495.2:c.418A>C	NP_002486.1:p.Lys140Gln
XM_005248525.3:c.350+12213A>C	XP_005248582.1:n.350+12213A>C
XM_011543415.1:c.244A>C	XP_011541717.1:p.Lys82Gln
NM_001318051.1:c.350+12213A>C	NP_001304980.1:n.350+12213A>C
NM_002495.3:c.418A>C	NP_002486.1:p.Lys140Gln
NR_134473.1:n.620A>C
NR_134474.1:n.537A>C
NR_134475.1:n.572A>C
NM_002495.4:c.418A>C MANE Select	NP_002486.1:p.Lys140Gln
NM_001318051.2:c.350+12213A>C	NP_001304980.1:n.350+12213A>C
NR_134473.2:n.614A>C
NR_134474.2:n.531A>C
NR_134475.2:n.566A>C