Canonical Allele Identifier: CA1546666280
Gene: NDUFS4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.53658573G= , CM000667.2:g.53658573G= GRCh38
NC_000005.9:g.52954403G= , CM000667.1:g.52954403G= GRCh37
NC_000005.8:g.52990160G= NCBI36
NG_008200.1:g.102939G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000296684.10:c.373G= MANE Select ENSP00000296684.5:p.Val125=
ENST00000296684.9:c.373G= ENSP00000296684.5:p.Val125=
ENST00000502423.5:c.*240G= ENSP00000422177.1:n.*240G=
ENST00000506765.1:c.338+12168G= ENSP00000424570.1:n.338+12168G=
ENST00000506974.5:c.*149G= ENSP00000425967.1:n.*149G=
ENST00000507026.5:c.*347G= ENSP00000424993.1:n.*347G=
ENST00000509443.1:n.234G=
NM_002495.2:c.373G= NP_002486.1:p.Val125=
XM_005248525.3:c.350+12168G= XP_005248582.1:n.350+12168G=
XM_011543415.1:c.199G= XP_011541717.1:p.Val67=
NM_001318051.1:c.350+12168G= NP_001304980.1:n.350+12168G=
NM_002495.3:c.373G= NP_002486.1:p.Val125=
NR_134473.1:n.575G=
NR_134474.1:n.492G=
NR_134475.1:n.527G=
NM_002495.4:c.373G= MANE Select NP_002486.1:p.Val125=
NM_001318051.2:c.350+12168G= NP_001304980.1:n.350+12168G=
NR_134473.2:n.569G=
NR_134474.2:n.486G=
NR_134475.2:n.521G=