Canonical Allele Identifier: CA2673829341
Gene: NDUFS4 HGNC NCBI

Linked Data

gnomAD v4: 5-53658463-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.53658463T>G , CM000667.2:g.53658463T>G GRCh38
NC_000005.9:g.52954293T>G , CM000667.1:g.52954293T>G GRCh37
NC_000005.8:g.52990050T>G NCBI36
NG_008200.1:g.102829T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000296684.10:c.351-88T>G MANE Select ENSP00000296684.5:n.351-88T>G
ENST00000296684.9:c.351-88T>G ENSP00000296684.5:n.351-88T>G
ENST00000502423.5:c.*218-88T>G ENSP00000422177.1:n.*218-88T>G
ENST00000506765.1:c.338+12058T>G ENSP00000424570.1:n.338+12058T>G
ENST00000506974.5:c.*127-88T>G ENSP00000425967.1:n.*127-88T>G
ENST00000507026.5:c.*325-88T>G ENSP00000424993.1:n.*325-88T>G
ENST00000509443.1:n.212-88T>G
NM_002495.2:c.351-88T>G NP_002486.1:n.351-88T>G
XM_005248525.3:c.350+12058T>G XP_005248582.1:n.350+12058T>G
XM_011543415.1:c.177-88T>G XP_011541717.1:n.177-88T>G
NM_001318051.1:c.350+12058T>G NP_001304980.1:n.350+12058T>G
NM_002495.3:c.351-88T>G NP_002486.1:n.351-88T>G
NR_134473.1:n.553-88T>G
NR_134474.1:n.470-88T>G
NR_134475.1:n.505-88T>G
NM_002495.4:c.351-88T>G MANE Select NP_002486.1:n.351-88T>G
NM_001318051.2:c.350+12058T>G NP_001304980.1:n.350+12058T>G
NR_134473.2:n.547-88T>G
NR_134474.2:n.464-88T>G
NR_134475.2:n.499-88T>G