Canonical Allele Identifier: CA471172316

Gene: NDUFB8 HIF1AN

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100529445G>A , CM000672.2:g.100529445G>A	GRCh38
NC_000010.10:g.102289202G>A , CM000672.1:g.102289202G>A	GRCh37
NC_000010.9:g.102279192G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_005004.4:c.147C>T (NDUFB8) MANE Select	NP_004995.1:p.Ala49=
ENST00000299166.9:c.147C>T (NDUFB8) MANE Select	ENSP00000299166.4:p.Ala49=
NM_001284367.1:c.147C>T (NDUFB8)	NP_001271296.1:p.Ala49=
NM_001284367.2:c.147C>T (NDUFB8)	NP_001271296.1:p.Ala49=
NM_001284368.1:c.54C>T (NDUFB8)	NP_001271297.1:p.Ala18=
NM_005004.3:c.147C>T (NDUFB8)	NP_004995.1:p.Ala49=
ENST00000299166.8:c.147C>T (NDUFB8)	ENSP00000299166.4:p.Ala49=
ENST00000370320.4:c.147C>T (NDUFB8)	ENSP00000359344.4:p.Ala49=
ENST00000370322.5:c.54C>T (NDUFB8)	ENSP00000359346.1:p.Ala18=
ENST00000466088.5:n.158C>T (NDUFB8)
ENST00000527595.5:c.147C>T	ENSP00000455090.1:p.Ala49=
ENST00000528174.5:c.147C>T	ENSP00000456355.1:p.Ala49=
ENST00000528425.5:c.147C>T (NDUFB8)	ENSP00000434072.1:p.Ala49=
ENST00000529437.1:n.179C>T (NDUFB8)
ENST00000529568.5:c.147C>T	ENSP00000455597.1:p.Ala49=
ENST00000531189.1:n.175C>T (NDUFB8)
ENST00000531418.5:n.175C>T (NDUFB8)
ENST00000533549.1:c.147C>T	ENSP00000456407.1:p.Ala49=
ENST00000533589.6:c.-145+49G>A (HIF1AN)	ENSP00000433360.2:n.-145+49G>A
ENST00000557395.5:c.147C>T	ENSP00000456832.1:p.Ala49=