Canonical Allele Identifier: CA359718957
Gene: NDUFS4 HGNC NCBI

Linked Data

dbSNP Id: rs1231682697
gnomAD v2: 5-52856514-G-A
gnomAD v3: 5-53560684-G-A
gnomAD v4: 5-53560684-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.53560684G>A , CM000667.2:g.53560684G>A GRCh38
NC_000005.9:g.52856514G>A , CM000667.1:g.52856514G>A GRCh37
NC_000005.8:g.52892271G>A NCBI36
NG_008200.1:g.5050G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296684.10:c.22G>A MANE Select ENSP00000296684.5:p.Val8Met
ENST00000296684.9:c.22G>A ENSP00000296684.5:p.Val8Met
ENST00000502423.5:c.22G>A ENSP00000422177.1:p.Val8Met
ENST00000506765.1:c.10G>A ENSP00000424570.1:p.Val4Met
ENST00000506974.5:c.22G>A ENSP00000425967.1:p.Val8Met
ENST00000507026.5:c.22G>A ENSP00000424993.1:p.Val8Met
NM_002495.2:c.22G>A NP_002486.1:p.Val8Met
XM_005248525.3:c.22G>A XP_005248582.1:p.Val8Met
XM_011543414.1:c.22G>A XP_011541716.1:p.Val8Met
NM_001318051.1:c.22G>A NP_001304980.1:p.Val8Met
NM_002495.3:c.22G>A NP_002486.1:p.Val8Met
NR_134473.1:n.52G>A
NR_134474.1:n.52G>A
NR_134475.1:n.52G>A
XM_017009491.1:c.22G>A XP_016864980.1:p.Val8Met
NM_002495.4:c.22G>A MANE Select NP_002486.1:p.Val8Met
NM_001318051.2:c.22G>A NP_001304980.1:p.Val8Met
NR_134473.2:n.46G>A
NR_134474.2:n.46G>A
NR_134475.2:n.46G>A