Canonical Allele Identifier: CA2578565716
Gene: AIF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31616329A>T , CM000668.2:g.31616329A>T GRCh38
NC_000006.11:g.31584106A>T , CM000668.1:g.31584106A>T GRCh37
NC_000006.10:g.31692085A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000376059.8:c.197-15A>T MANE Select ENSP00000365227.3:n.197-15A>T
ENST00000337917.11:c.239-15A>T ENSP00000338776.7:n.239-15A>T
ENST00000376049.4:c.35-15A>T ENSP00000365217.4:n.35-15A>T
ENST00000376059.7:c.197-15A>T ENSP00000365227.3:n.197-15A>T
ENST00000466820.1:n.797A>T
ENST00000497362.5:n.799A>T
NM_001623.3:c.197-15A>T NP_001614.3:n.197-15A>T
NM_004847.3:c.218A>T NP_004838.1:p.His73Leu
NM_032955.1:c.35-15A>T NP_116573.1:n.35-15A>T
XM_005248870.3:c.380A>T XP_005248927.1:p.His127Leu
XM_005248871.1:c.260-15A>T XP_005248928.1:n.260-15A>T
NM_001318970.1:c.35-15A>T NP_001305899.1:n.35-15A>T
NM_001623.4:c.197-15A>T NP_001614.3:n.197-15A>T
NM_032955.2:c.35-15A>T NP_116573.1:n.35-15A>T
XM_005248870.4:c.380A>T XP_005248927.1:p.His127Leu
XM_017010332.1:c.218A>T XP_016865821.1:p.His73Leu
NM_001623.5:c.197-15A>T MANE Select NP_001614.3:n.197-15A>T
NM_001318970.2:c.35-15A>T NP_001305899.1:n.35-15A>T
NM_032955.3:c.35-15A>T NP_116573.1:n.35-15A>T