Canonical Allele Identifier: CA5650261

Gene: NDUFB8 HIF1AN

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100529522G>T , CM000672.2:g.100529522G>T	GRCh38
NC_000010.10:g.102289279G>T , CM000672.1:g.102289279G>T	GRCh37
NC_000010.9:g.102279269G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_005004.4:c.86-16C>A (NDUFB8) MANE Select	NP_004995.1:n.86-16C>A
ENST00000299166.9:c.86-16C>A (NDUFB8) MANE Select	ENSP00000299166.4:n.86-16C>A
NM_001284367.1:c.86-16C>A (NDUFB8)	NP_001271296.1:n.86-16C>A
NM_001284367.2:c.86-16C>A (NDUFB8)	NP_001271296.1:n.86-16C>A
NM_001284368.1:c.-8-16C>A (NDUFB8)	NP_001271297.1:n.-8-16C>A
NM_005004.3:c.86-16C>A (NDUFB8)	NP_004995.1:n.86-16C>A
ENST00000299166.8:c.86-16C>A (NDUFB8)	ENSP00000299166.4:n.86-16C>A
ENST00000370320.4:c.86-16C>A (NDUFB8)	ENSP00000359344.4:n.86-16C>A
ENST00000370322.5:c.-8-16C>A (NDUFB8)	ENSP00000359346.1:n.-8-16C>A
ENST00000466088.5:n.97-16C>A (NDUFB8)
ENST00000527595.5:c.86-16C>A	ENSP00000455090.1:n.86-16C>A
ENST00000528174.5:c.86-16C>A	ENSP00000456355.1:n.86-16C>A
ENST00000528425.5:c.86-16C>A (NDUFB8)	ENSP00000434072.1:n.86-16C>A
ENST00000529437.1:n.118-16C>A (NDUFB8)
ENST00000529568.5:c.86-16C>A	ENSP00000455597.1:n.86-16C>A
ENST00000531189.1:n.114-16C>A (NDUFB8)
ENST00000531418.5:n.114-16C>A (NDUFB8)
ENST00000533549.1:c.86-16C>A	ENSP00000456407.1:n.86-16C>A
ENST00000533589.6:c.-145+126G>T (HIF1AN)	ENSP00000433360.2:n.-145+126G>T
ENST00000557395.5:c.86-16C>A	ENSP00000456832.1:n.86-16C>A