Canonical Allele Identifier: CA1546660803
Gene: NDUFS4 HGNC NCBI

Linked Data

dbSNP Id: rs1751857824

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.53646213T>C , CM000667.2:g.53646213T>C GRCh38
NC_000005.9:g.52942043T>C , CM000667.1:g.52942043T>C GRCh37
NC_000005.8:g.52977800T>C NCBI36
NG_008200.1:g.90579T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000296684.10:c.178-20T>C MANE Select ENSP00000296684.5:n.178-20T>C
ENST00000296684.9:c.178-20T>C ENSP00000296684.5:n.178-20T>C
ENST00000502423.5:c.*45-20T>C ENSP00000422177.1:n.*45-20T>C
ENST00000506765.1:c.166-20T>C ENSP00000424570.1:n.166-20T>C
ENST00000506974.5:c.350-20T>C ENSP00000425967.1:n.350-20T>C
ENST00000507026.5:c.*152-20T>C ENSP00000424993.1:n.*152-20T>C
ENST00000509443.1:n.19T>C
NM_002495.2:c.178-20T>C NP_002486.1:n.178-20T>C
XM_005248525.3:c.178-20T>C XP_005248582.1:n.178-20T>C
XM_011543415.1:c.4-20T>C XP_011541717.1:n.4-20T>C
NM_001318051.1:c.178-20T>C NP_001304980.1:n.178-20T>C
NM_002495.3:c.178-20T>C NP_002486.1:n.178-20T>C
NR_134473.1:n.380-20T>C
NR_134474.1:n.297-20T>C
NR_134475.1:n.332-20T>C
NM_002495.4:c.178-20T>C MANE Select NP_002486.1:n.178-20T>C
NM_001318051.2:c.178-20T>C NP_001304980.1:n.178-20T>C
NR_134473.2:n.374-20T>C
NR_134474.2:n.291-20T>C
NR_134475.2:n.326-20T>C