Canonical Allele Identifier: CA1076121680
Gene: NDUFS4 HGNC NCBI

Linked Data

gnomAD v3: 5-53658774-C-A
gnomAD v4: 5-53658774-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.53658774C>A , CM000667.2:g.53658774C>A GRCh38
NC_000005.9:g.52954604C>A , CM000667.1:g.52954604C>A GRCh37
NC_000005.8:g.52990361C>A NCBI36
NG_008200.1:g.103140C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296684.10:c.424+150C>A MANE Select ENSP00000296684.5:n.424+150C>A
ENST00000296684.9:c.424+150C>A ENSP00000296684.5:n.424+150C>A
ENST00000502423.5:c.*291+150C>A ENSP00000422177.1:n.*291+150C>A
ENST00000506765.1:c.338+12369C>A ENSP00000424570.1:n.338+12369C>A
ENST00000506974.5:c.*200+150C>A ENSP00000425967.1:n.*200+150C>A
ENST00000507026.5:c.*398+150C>A ENSP00000424993.1:n.*398+150C>A
ENST00000509443.1:n.435C>A
NM_002495.2:c.424+150C>A NP_002486.1:n.424+150C>A
XM_005248525.3:c.350+12369C>A XP_005248582.1:n.350+12369C>A
XM_011543415.1:c.250+150C>A XP_011541717.1:n.250+150C>A
NM_001318051.1:c.350+12369C>A NP_001304980.1:n.350+12369C>A
NM_002495.3:c.424+150C>A NP_002486.1:n.424+150C>A
NR_134473.1:n.626+150C>A
NR_134474.1:n.543+150C>A
NR_134475.1:n.578+150C>A
NM_002495.4:c.424+150C>A MANE Select NP_002486.1:n.424+150C>A
NM_001318051.2:c.350+12369C>A NP_001304980.1:n.350+12369C>A
NR_134473.2:n.620+150C>A
NR_134474.2:n.537+150C>A
NR_134475.2:n.572+150C>A