Canonical Allele Identifier: CA2673829337
Gene: NDUFS4 HGNC NCBI

Linked Data

gnomAD v4: 5-53658460-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.53658460G>T , CM000667.2:g.53658460G>T GRCh38
NC_000005.9:g.52954290G>T , CM000667.1:g.52954290G>T GRCh37
NC_000005.8:g.52990047G>T NCBI36
NG_008200.1:g.102826G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296684.10:c.351-91G>T MANE Select ENSP00000296684.5:n.351-91G>T
ENST00000296684.9:c.351-91G>T ENSP00000296684.5:n.351-91G>T
ENST00000502423.5:c.*218-91G>T ENSP00000422177.1:n.*218-91G>T
ENST00000506765.1:c.338+12055G>T ENSP00000424570.1:n.338+12055G>T
ENST00000506974.5:c.*127-91G>T ENSP00000425967.1:n.*127-91G>T
ENST00000507026.5:c.*325-91G>T ENSP00000424993.1:n.*325-91G>T
ENST00000509443.1:n.212-91G>T
NM_002495.2:c.351-91G>T NP_002486.1:n.351-91G>T
XM_005248525.3:c.350+12055G>T XP_005248582.1:n.350+12055G>T
XM_011543415.1:c.177-91G>T XP_011541717.1:n.177-91G>T
NM_001318051.1:c.350+12055G>T NP_001304980.1:n.350+12055G>T
NM_002495.3:c.351-91G>T NP_002486.1:n.351-91G>T
NR_134473.1:n.553-91G>T
NR_134474.1:n.470-91G>T
NR_134475.1:n.505-91G>T
NM_002495.4:c.351-91G>T MANE Select NP_002486.1:n.351-91G>T
NM_001318051.2:c.350+12055G>T NP_001304980.1:n.350+12055G>T
NR_134473.2:n.547-91G>T
NR_134474.2:n.464-91G>T
NR_134475.2:n.499-91G>T