Canonical Allele Identifier: CA444330388

Gene: NDUFS4

Linked Data

• MyVariant Identifiers: chr5:g.52942203A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646373A>G , CM000667.2:g.53646373A>G	GRCh38
NC_000005.9:g.52942203A>G , CM000667.1:g.52942203A>G	GRCh37
NC_000005.8:g.52977960A>G	NCBI36
NG_008200.1:g.90739A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000296684.10:c.318A>G MANE Select	ENSP00000296684.5:p.Arg106=
ENST00000296684.9:c.318A>G	ENSP00000296684.5:p.Arg106=
ENST00000502423.5:c.*185A>G	ENSP00000422177.1:n.*185A>G
ENST00000506765.1:c.306A>G	ENSP00000424570.1:p.Arg102=
ENST00000506974.5:c.*94A>G	ENSP00000425967.1:n.*94A>G
ENST00000507026.5:c.*292A>G	ENSP00000424993.1:n.*292A>G
ENST00000509443.1:n.179A>G
NM_002495.2:c.318A>G	NP_002486.1:p.Arg106=
XM_005248525.3:c.318A>G	XP_005248582.1:p.Arg106=
XM_011543415.1:c.144A>G	XP_011541717.1:p.Arg48=
NM_001318051.1:c.318A>G	NP_001304980.1:p.Arg106=
NM_002495.3:c.318A>G	NP_002486.1:p.Arg106=
NR_134473.1:n.520A>G
NR_134474.1:n.437A>G
NR_134475.1:n.472A>G
NM_002495.4:c.318A>G MANE Select	NP_002486.1:p.Arg106=
NM_001318051.2:c.318A>G	NP_001304980.1:p.Arg106=
NR_134473.2:n.514A>G
NR_134474.2:n.431A>G
NR_134475.2:n.466A>G