Canonical Allele Identifier: CA2673829383
Gene: NDUFS4 HGNC NCBI

Linked Data

gnomAD v4: 5-53658525-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.53658525C>A , CM000667.2:g.53658525C>A GRCh38
NC_000005.9:g.52954355C>A , CM000667.1:g.52954355C>A GRCh37
NC_000005.8:g.52990112C>A NCBI36
NG_008200.1:g.102891C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296684.10:c.351-26C>A MANE Select ENSP00000296684.5:n.351-26C>A
ENST00000296684.9:c.351-26C>A ENSP00000296684.5:n.351-26C>A
ENST00000502423.5:c.*218-26C>A ENSP00000422177.1:n.*218-26C>A
ENST00000506765.1:c.338+12120C>A ENSP00000424570.1:n.338+12120C>A
ENST00000506974.5:c.*127-26C>A ENSP00000425967.1:n.*127-26C>A
ENST00000507026.5:c.*325-26C>A ENSP00000424993.1:n.*325-26C>A
ENST00000509443.1:n.212-26C>A
NM_002495.2:c.351-26C>A NP_002486.1:n.351-26C>A
XM_005248525.3:c.350+12120C>A XP_005248582.1:n.350+12120C>A
XM_011543415.1:c.177-26C>A XP_011541717.1:n.177-26C>A
NM_001318051.1:c.350+12120C>A NP_001304980.1:n.350+12120C>A
NM_002495.3:c.351-26C>A NP_002486.1:n.351-26C>A
NR_134473.1:n.553-26C>A
NR_134474.1:n.470-26C>A
NR_134475.1:n.505-26C>A
NM_002495.4:c.351-26C>A MANE Select NP_002486.1:n.351-26C>A
NM_001318051.2:c.350+12120C>A NP_001304980.1:n.350+12120C>A
NR_134473.2:n.547-26C>A
NR_134474.2:n.464-26C>A
NR_134475.2:n.499-26C>A