Canonical Allele Identifier: CA359719266

Gene: NDUFS4

Linked Data

• COSMIC: COSM482875
• MyVariant Identifiers: chr5:g.52954452A>C (hg19) ; chr5:g.53658622A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658622A>C , CM000667.2:g.53658622A>C	GRCh38
NC_000005.9:g.52954452A>C , CM000667.1:g.52954452A>C	GRCh37
NC_000005.8:g.52990209A>C	NCBI36
NG_008200.1:g.102988A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.422A>C MANE Select	ENSP00000296684.5:p.Asn141Thr
ENST00000296684.9:c.422A>C	ENSP00000296684.5:p.Asn141Thr
ENST00000502423.5:c.*289A>C	ENSP00000422177.1:n.*289A>C
ENST00000506765.1:c.338+12217A>C	ENSP00000424570.1:n.338+12217A>C
ENST00000506974.5:c.*198A>C	ENSP00000425967.1:n.*198A>C
ENST00000507026.5:c.*396A>C	ENSP00000424993.1:n.*396A>C
ENST00000509443.1:n.283A>C
NM_002495.2:c.422A>C	NP_002486.1:p.Asn141Thr
XM_005248525.3:c.350+12217A>C	XP_005248582.1:n.350+12217A>C
XM_011543415.1:c.248A>C	XP_011541717.1:p.Asn83Thr
NM_001318051.1:c.350+12217A>C	NP_001304980.1:n.350+12217A>C
NM_002495.3:c.422A>C	NP_002486.1:p.Asn141Thr
NR_134473.1:n.624A>C
NR_134474.1:n.541A>C
NR_134475.1:n.576A>C
NM_002495.4:c.422A>C MANE Select	NP_002486.1:p.Asn141Thr
NM_001318051.2:c.350+12217A>C	NP_001304980.1:n.350+12217A>C
NR_134473.2:n.618A>C
NR_134474.2:n.535A>C
NR_134475.2:n.570A>C