Canonical Allele Identifier: CA5650295
Gene: NDUFB8 HGNC NCBI
HIF1AN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.100529819G>T , CM000672.2:g.100529819G>T GRCh38
NC_000010.10:g.102289576G>T , CM000672.1:g.102289576G>T GRCh37
NC_000010.9:g.102279566G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000299166.9:c.33C>A (NDUFB8) MANE Select ENSP00000299166.4:p.Val11=
ENST00000299166.8:c.33C>A (NDUFB8) ENSP00000299166.4:p.Val11=
ENST00000370320.4:c.33C>A (NDUFB8) ENSP00000359344.4:p.Val11=
ENST00000370322.5:c.-9+39C>A (NDUFB8) ENSP00000359346.1:n.-9+39C>A
ENST00000466088.5:n.44C>A (NDUFB8)
ENST00000527595.5:c.33C>A ENSP00000455090.1:p.Val11=
ENST00000528174.5:c.33C>A ENSP00000456355.1:p.Val11=
ENST00000528425.5:c.33C>A (NDUFB8) ENSP00000434072.1:p.Val11=
ENST00000529437.1:n.65C>A (NDUFB8)
ENST00000529568.5:c.33C>A ENSP00000455597.1:p.Val11=
ENST00000531189.1:n.61C>A (NDUFB8)
ENST00000531418.5:n.61C>A (NDUFB8)
ENST00000533549.1:c.33C>A ENSP00000456407.1:p.Val11=
ENST00000533589.6:c.-145+423G>T (HIF1AN) ENSP00000433360.2:n.-145+423G>T
ENST00000557395.5:c.33C>A ENSP00000456832.1:p.Val11=
NM_001284367.1:c.33C>A (NDUFB8) NP_001271296.1:p.Val11=
NM_001284368.1:c.-9+39C>A (NDUFB8) NP_001271297.1:n.-9+39C>A
NM_005004.3:c.33C>A (NDUFB8) NP_004995.1:p.Val11=
NM_005004.4:c.33C>A (NDUFB8) MANE Select NP_004995.1:p.Val11=
NM_001284367.2:c.33C>A (NDUFB8) NP_001271296.1:p.Val11=