Canonical Allele Identifier: CA2673829333
Gene: NDUFS4 HGNC NCBI

Linked Data

gnomAD v4: 5-53658456-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.53658456A>T , CM000667.2:g.53658456A>T GRCh38
NC_000005.9:g.52954286A>T , CM000667.1:g.52954286A>T GRCh37
NC_000005.8:g.52990043A>T NCBI36
NG_008200.1:g.102822A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296684.10:c.351-95A>T MANE Select ENSP00000296684.5:n.351-95A>T
ENST00000296684.9:c.351-95A>T ENSP00000296684.5:n.351-95A>T
ENST00000502423.5:c.*218-95A>T ENSP00000422177.1:n.*218-95A>T
ENST00000506765.1:c.338+12051A>T ENSP00000424570.1:n.338+12051A>T
ENST00000506974.5:c.*127-95A>T ENSP00000425967.1:n.*127-95A>T
ENST00000507026.5:c.*325-95A>T ENSP00000424993.1:n.*325-95A>T
ENST00000509443.1:n.212-95A>T
NM_002495.2:c.351-95A>T NP_002486.1:n.351-95A>T
XM_005248525.3:c.350+12051A>T XP_005248582.1:n.350+12051A>T
XM_011543415.1:c.177-95A>T XP_011541717.1:n.177-95A>T
NM_001318051.1:c.350+12051A>T NP_001304980.1:n.350+12051A>T
NM_002495.3:c.351-95A>T NP_002486.1:n.351-95A>T
NR_134473.1:n.553-95A>T
NR_134474.1:n.470-95A>T
NR_134475.1:n.505-95A>T
NM_002495.4:c.351-95A>T MANE Select NP_002486.1:n.351-95A>T
NM_001318051.2:c.350+12051A>T NP_001304980.1:n.350+12051A>T
NR_134473.2:n.547-95A>T
NR_134474.2:n.464-95A>T
NR_134475.2:n.499-95A>T