Canonical Allele Identifier: CA1546666279
Gene: NDUFS4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.53658571T= , CM000667.2:g.53658571T= GRCh38
NC_000005.9:g.52954401T= , CM000667.1:g.52954401T= GRCh37
NC_000005.8:g.52990158T= NCBI36
NG_008200.1:g.102937T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000296684.10:c.371T= MANE Select ENSP00000296684.5:p.Met124=
ENST00000296684.9:c.371T= ENSP00000296684.5:p.Met124=
ENST00000502423.5:c.*238T= ENSP00000422177.1:n.*238T=
ENST00000506765.1:c.338+12166T= ENSP00000424570.1:n.338+12166T=
ENST00000506974.5:c.*147T= ENSP00000425967.1:n.*147T=
ENST00000507026.5:c.*345T= ENSP00000424993.1:n.*345T=
ENST00000509443.1:n.232T=
NM_002495.2:c.371T= NP_002486.1:p.Met124=
XM_005248525.3:c.350+12166T= XP_005248582.1:n.350+12166T=
XM_011543415.1:c.197T= XP_011541717.1:p.Met66=
NM_001318051.1:c.350+12166T= NP_001304980.1:n.350+12166T=
NM_002495.3:c.371T= NP_002486.1:p.Met124=
NR_134473.1:n.573T=
NR_134474.1:n.490T=
NR_134475.1:n.525T=
NM_002495.4:c.371T= MANE Select NP_002486.1:p.Met124=
NM_001318051.2:c.350+12166T= NP_001304980.1:n.350+12166T=
NR_134473.2:n.567T=
NR_134474.2:n.484T=
NR_134475.2:n.519T=