Canonical Allele Identifier: CA1546660778
Gene: NDUFS4 HGNC NCBI

Linked Data

dbSNP Id: rs1751856300
gnomAD v4: 5-53646182-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.53646182G>A , CM000667.2:g.53646182G>A GRCh38
NC_000005.9:g.52942012G>A , CM000667.1:g.52942012G>A GRCh37
NC_000005.8:g.52977769G>A NCBI36
NG_008200.1:g.90548G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296684.10:c.178-51G>A MANE Select ENSP00000296684.5:n.178-51G>A
ENST00000296684.9:c.178-51G>A ENSP00000296684.5:n.178-51G>A
ENST00000502423.5:c.*45-51G>A ENSP00000422177.1:n.*45-51G>A
ENST00000506765.1:c.166-51G>A ENSP00000424570.1:n.166-51G>A
ENST00000506974.5:c.350-51G>A ENSP00000425967.1:n.350-51G>A
ENST00000507026.5:c.*152-51G>A ENSP00000424993.1:n.*152-51G>A
NM_002495.2:c.178-51G>A NP_002486.1:n.178-51G>A
XM_005248525.3:c.178-51G>A XP_005248582.1:n.178-51G>A
XM_011543415.1:c.4-51G>A XP_011541717.1:n.4-51G>A
NM_001318051.1:c.178-51G>A NP_001304980.1:n.178-51G>A
NM_002495.3:c.178-51G>A NP_002486.1:n.178-51G>A
NR_134473.1:n.380-51G>A
NR_134474.1:n.297-51G>A
NR_134475.1:n.332-51G>A
NM_002495.4:c.178-51G>A MANE Select NP_002486.1:n.178-51G>A
NM_001318051.2:c.178-51G>A NP_001304980.1:n.178-51G>A
NR_134473.2:n.374-51G>A
NR_134474.2:n.291-51G>A
NR_134475.2:n.326-51G>A