Canonical Allele Identifier: CA359719724

Gene: NDUFS4

Linked Data

• MyVariant Identifiers: chr5:g.52942151C>T (hg19) ; chr5:g.53646321C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646321C>T , CM000667.2:g.53646321C>T	GRCh38
NC_000005.9:g.52942151C>T , CM000667.1:g.52942151C>T	GRCh37
NC_000005.8:g.52977908C>T	NCBI36
NG_008200.1:g.90687C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.266C>T MANE Select	ENSP00000296684.5:p.Ser89Phe
ENST00000296684.9:c.266C>T	ENSP00000296684.5:p.Ser89Phe
ENST00000502423.5:c.*133C>T	ENSP00000422177.1:n.*133C>T
ENST00000506765.1:c.254C>T	ENSP00000424570.1:p.Ser85Phe
ENST00000506974.5:c.*42C>T	ENSP00000425967.1:n.*42C>T
ENST00000507026.5:c.*240C>T	ENSP00000424993.1:n.*240C>T
ENST00000509443.1:n.127C>T
NM_002495.2:c.266C>T	NP_002486.1:p.Ser89Phe
XM_005248525.3:c.266C>T	XP_005248582.1:p.Ser89Phe
XM_011543415.1:c.92C>T	XP_011541717.1:p.Ser31Phe
NM_001318051.1:c.266C>T	NP_001304980.1:p.Ser89Phe
NM_002495.3:c.266C>T	NP_002486.1:p.Ser89Phe
NR_134473.1:n.468C>T
NR_134474.1:n.385C>T
NR_134475.1:n.420C>T
NM_002495.4:c.266C>T MANE Select	NP_002486.1:p.Ser89Phe
NM_001318051.2:c.266C>T	NP_001304980.1:p.Ser89Phe
NR_134473.2:n.462C>T
NR_134474.2:n.379C>T
NR_134475.2:n.414C>T