Canonical Allele Identifier: CA1546666252
Gene: NDUFS4 HGNC NCBI

Linked Data

dbSNP Id: rs112872688

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.53658518G>T , CM000667.2:g.53658518G>T GRCh38
NC_000005.9:g.52954348G>T , CM000667.1:g.52954348G>T GRCh37
NC_000005.8:g.52990105G>T NCBI36
NG_008200.1:g.102884G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296684.10:c.351-33G>T MANE Select ENSP00000296684.5:n.351-33G>T
ENST00000296684.9:c.351-33G>T ENSP00000296684.5:n.351-33G>T
ENST00000502423.5:c.*218-33G>T ENSP00000422177.1:n.*218-33G>T
ENST00000506765.1:c.338+12113G>T ENSP00000424570.1:n.338+12113G>T
ENST00000506974.5:c.*127-33G>T ENSP00000425967.1:n.*127-33G>T
ENST00000507026.5:c.*325-33G>T ENSP00000424993.1:n.*325-33G>T
ENST00000509443.1:n.212-33G>T
NM_002495.2:c.351-33G>T NP_002486.1:n.351-33G>T
XM_005248525.3:c.350+12113G>T XP_005248582.1:n.350+12113G>T
XM_011543415.1:c.177-33G>T XP_011541717.1:n.177-33G>T
NM_001318051.1:c.350+12113G>T NP_001304980.1:n.350+12113G>T
NM_002495.3:c.351-33G>T NP_002486.1:n.351-33G>T
NR_134473.1:n.553-33G>T
NR_134474.1:n.470-33G>T
NR_134475.1:n.505-33G>T
NM_002495.4:c.351-33G>T MANE Select NP_002486.1:n.351-33G>T
NM_001318051.2:c.350+12113G>T NP_001304980.1:n.350+12113G>T
NR_134473.2:n.547-33G>T
NR_134474.2:n.464-33G>T
NR_134475.2:n.499-33G>T