Canonical Allele Identifier: CA595483669

Gene: NDUFB8 HIF1AN

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100529360G>A , CM000672.2:g.100529360G>A	GRCh38
NC_000010.10:g.102289117G>A , CM000672.1:g.102289117G>A	GRCh37
NC_000010.9:g.102279107G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_005004.4:c.212+20C>T (NDUFB8) MANE Select	NP_004995.1:n.212+20C>T
ENST00000299166.9:c.212+20C>T (NDUFB8) MANE Select	ENSP00000299166.4:n.212+20C>T
NM_001284367.1:c.212+20C>T (NDUFB8)	NP_001271296.1:n.212+20C>T
NM_001284367.2:c.212+20C>T (NDUFB8)	NP_001271296.1:n.212+20C>T
NM_001284368.1:c.119+20C>T (NDUFB8)	NP_001271297.1:n.119+20C>T
NM_005004.3:c.212+20C>T (NDUFB8)	NP_004995.1:n.212+20C>T
ENST00000299166.8:c.212+20C>T (NDUFB8)	ENSP00000299166.4:n.212+20C>T
ENST00000370320.4:c.212+20C>T (NDUFB8)	ENSP00000359344.4:n.212+20C>T
ENST00000370322.5:c.119+20C>T (NDUFB8)	ENSP00000359346.1:n.119+20C>T
ENST00000466088.5:n.223+20C>T (NDUFB8)
ENST00000527595.5:c.212+20C>T	ENSP00000455090.1:n.212+20C>T
ENST00000528174.5:c.*10+6C>T	ENSP00000456355.1:n.*10+6C>T
ENST00000528425.5:c.*10+6C>T (NDUFB8)	ENSP00000434072.1:n.*10+6C>T
ENST00000529437.1:n.244+20C>T (NDUFB8)
ENST00000529568.5:c.212+20C>T	ENSP00000455597.1:n.212+20C>T
ENST00000531189.1:n.260C>T (NDUFB8)
ENST00000531418.5:n.254+6C>T (NDUFB8)
ENST00000533549.1:c.*10+6C>T	ENSP00000456407.1:n.*10+6C>T
ENST00000533589.6:c.-181G>A (HIF1AN)	ENSP00000433360.2:n.-181G>A
ENST00000557395.5:c.212+20C>T	ENSP00000456832.1:n.212+20C>T