Canonical Allele Identifier: CA2673829193
Gene: NDUFS4 HGNC NCBI

Linked Data

gnomAD v4: 5-53646165-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.53646165A>G , CM000667.2:g.53646165A>G GRCh38
NC_000005.9:g.52941995A>G , CM000667.1:g.52941995A>G GRCh37
NC_000005.8:g.52977752A>G NCBI36
NG_008200.1:g.90531A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000296684.10:c.178-68A>G MANE Select ENSP00000296684.5:n.178-68A>G
ENST00000296684.9:c.178-68A>G ENSP00000296684.5:n.178-68A>G
ENST00000502423.5:c.*45-68A>G ENSP00000422177.1:n.*45-68A>G
ENST00000506765.1:c.166-68A>G ENSP00000424570.1:n.166-68A>G
ENST00000506974.5:c.350-68A>G ENSP00000425967.1:n.350-68A>G
ENST00000507026.5:c.*152-68A>G ENSP00000424993.1:n.*152-68A>G
NM_002495.2:c.178-68A>G NP_002486.1:n.178-68A>G
XM_005248525.3:c.178-68A>G XP_005248582.1:n.178-68A>G
XM_011543415.1:c.4-68A>G XP_011541717.1:n.4-68A>G
NM_001318051.1:c.178-68A>G NP_001304980.1:n.178-68A>G
NM_002495.3:c.178-68A>G NP_002486.1:n.178-68A>G
NR_134473.1:n.380-68A>G
NR_134474.1:n.297-68A>G
NR_134475.1:n.332-68A>G
NM_002495.4:c.178-68A>G MANE Select NP_002486.1:n.178-68A>G
NM_001318051.2:c.178-68A>G NP_001304980.1:n.178-68A>G
NR_134473.2:n.374-68A>G
NR_134474.2:n.291-68A>G
NR_134475.2:n.326-68A>G