Canonical Allele Identifier: CA359719665

Gene: NDUFS4

Linked Data

• MyVariant Identifiers: chr5:g.52942124T>C (hg19) ; chr5:g.53646294T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646294T>C , CM000667.2:g.53646294T>C	GRCh38
NC_000005.9:g.52942124T>C , CM000667.1:g.52942124T>C	GRCh37
NC_000005.8:g.52977881T>C	NCBI36
NG_008200.1:g.90660T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.239T>C MANE Select	ENSP00000296684.5:p.Phe80Ser
ENST00000296684.9:c.239T>C	ENSP00000296684.5:p.Phe80Ser
ENST00000502423.5:c.*106T>C	ENSP00000422177.1:n.*106T>C
ENST00000506765.1:c.227T>C	ENSP00000424570.1:p.Phe76Ser
ENST00000506974.5:c.*15T>C	ENSP00000425967.1:n.*15T>C
ENST00000507026.5:c.*213T>C	ENSP00000424993.1:n.*213T>C
ENST00000509443.1:n.100T>C
NM_002495.2:c.239T>C	NP_002486.1:p.Phe80Ser
XM_005248525.3:c.239T>C	XP_005248582.1:p.Phe80Ser
XM_011543415.1:c.65T>C	XP_011541717.1:p.Phe22Ser
NM_001318051.1:c.239T>C	NP_001304980.1:p.Phe80Ser
NM_002495.3:c.239T>C	NP_002486.1:p.Phe80Ser
NR_134473.1:n.441T>C
NR_134474.1:n.358T>C
NR_134475.1:n.393T>C
NM_002495.4:c.239T>C MANE Select	NP_002486.1:p.Phe80Ser
NM_001318051.2:c.239T>C	NP_001304980.1:p.Phe80Ser
NR_134473.2:n.435T>C
NR_134474.2:n.352T>C
NR_134475.2:n.387T>C