Canonical Allele Identifier: CA2673828366
Gene: NDUFS4 HGNC NCBI

Linked Data

gnomAD v4: 5-53560642-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.53560642C>T , CM000667.2:g.53560642C>T GRCh38
NC_000005.9:g.52856472C>T , CM000667.1:g.52856472C>T GRCh37
NC_000005.8:g.52892229C>T NCBI36
NG_008200.1:g.5008C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296684.10:c.-21C>T MANE Select ENSP00000296684.5:n.-21C>T
ENST00000296684.9:c.-21C>T ENSP00000296684.5:n.-21C>T
ENST00000502423.5:c.-21C>T ENSP00000422177.1:n.-21C>T
ENST00000507026.5:c.-21C>T ENSP00000424993.1:n.-21C>T
NM_002495.2:c.-21C>T NP_002486.1:n.-21C>T
XM_005248525.3:c.-21C>T XP_005248582.1:n.-21C>T
XM_011543414.1:c.-21C>T XP_011541716.1:n.-21C>T
NM_001318051.1:c.-21C>T NP_001304980.1:n.-21C>T
NM_002495.3:c.-21C>T NP_002486.1:n.-21C>T
NR_134473.1:n.10C>T
NR_134474.1:n.10C>T
NR_134475.1:n.10C>T
XM_017009491.1:c.-21C>T XP_016864980.1:n.-21C>T
NM_002495.4:c.-21C>T MANE Select NP_002486.1:n.-21C>T
NM_001318051.2:c.-21C>T NP_001304980.1:n.-21C>T
NR_134473.2:n.4C>T
NR_134474.2:n.4C>T
NR_134475.2:n.4C>T