Canonical Allele Identifier: CA1546666255
Gene: NDUFS4 HGNC NCBI

Linked Data

dbSNP Id: rs1579926635

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.53658529G>C , CM000667.2:g.53658529G>C GRCh38
NC_000005.9:g.52954359G>C , CM000667.1:g.52954359G>C GRCh37
NC_000005.8:g.52990116G>C NCBI36
NG_008200.1:g.102895G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000296684.10:c.351-22G>C MANE Select ENSP00000296684.5:n.351-22G>C
ENST00000296684.9:c.351-22G>C ENSP00000296684.5:n.351-22G>C
ENST00000502423.5:c.*218-22G>C ENSP00000422177.1:n.*218-22G>C
ENST00000506765.1:c.338+12124G>C ENSP00000424570.1:n.338+12124G>C
ENST00000506974.5:c.*127-22G>C ENSP00000425967.1:n.*127-22G>C
ENST00000507026.5:c.*325-22G>C ENSP00000424993.1:n.*325-22G>C
ENST00000509443.1:n.212-22G>C
NM_002495.2:c.351-22G>C NP_002486.1:n.351-22G>C
XM_005248525.3:c.350+12124G>C XP_005248582.1:n.350+12124G>C
XM_011543415.1:c.177-22G>C XP_011541717.1:n.177-22G>C
NM_001318051.1:c.350+12124G>C NP_001304980.1:n.350+12124G>C
NM_002495.3:c.351-22G>C NP_002486.1:n.351-22G>C
NR_134473.1:n.553-22G>C
NR_134474.1:n.470-22G>C
NR_134475.1:n.505-22G>C
NM_002495.4:c.351-22G>C MANE Select NP_002486.1:n.351-22G>C
NM_001318051.2:c.350+12124G>C NP_001304980.1:n.350+12124G>C
NR_134473.2:n.547-22G>C
NR_134474.2:n.464-22G>C
NR_134475.2:n.499-22G>C