Canonical Allele Identifier: CA444330345

Gene: NDUFS4

Linked Data

• gnomAD v4: 5-53646292-C-T
• MyVariant Identifiers: chr5:g.52942122C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646292C>T , CM000667.2:g.53646292C>T	GRCh38
NC_000005.9:g.52942122C>T , CM000667.1:g.52942122C>T	GRCh37
NC_000005.8:g.52977879C>T	NCBI36
NG_008200.1:g.90658C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.237C>T MANE Select	ENSP00000296684.5:p.Ile79=
ENST00000296684.9:c.237C>T	ENSP00000296684.5:p.Ile79=
ENST00000502423.5:c.*104C>T	ENSP00000422177.1:n.*104C>T
ENST00000506765.1:c.225C>T	ENSP00000424570.1:p.Ile75=
ENST00000506974.5:c.*13C>T	ENSP00000425967.1:n.*13C>T
ENST00000507026.5:c.*211C>T	ENSP00000424993.1:n.*211C>T
ENST00000509443.1:n.98C>T
NM_002495.2:c.237C>T	NP_002486.1:p.Ile79=
XM_005248525.3:c.237C>T	XP_005248582.1:p.Ile79=
XM_011543415.1:c.63C>T	XP_011541717.1:p.Ile21=
NM_001318051.1:c.237C>T	NP_001304980.1:p.Ile79=
NM_002495.3:c.237C>T	NP_002486.1:p.Ile79=
NR_134473.1:n.439C>T
NR_134474.1:n.356C>T
NR_134475.1:n.391C>T
NM_002495.4:c.237C>T MANE Select	NP_002486.1:p.Ile79=
NM_001318051.2:c.237C>T	NP_001304980.1:p.Ile79=
NR_134473.2:n.433C>T
NR_134474.2:n.350C>T
NR_134475.2:n.385C>T