Canonical Allele Identifier: CA2770515242

Gene: AIF1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31616322C>A , CM000668.2:g.31616322C>A	GRCh38
NC_000006.11:g.31584099C>A , CM000668.1:g.31584099C>A	GRCh37
NC_000006.10:g.31692078C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376059.8:c.197-22C>A MANE Select	ENSP00000365227.3:n.197-22C>A
ENST00000337917.11:c.239-22C>A	ENSP00000338776.7:n.239-22C>A
ENST00000376049.4:c.35-22C>A	ENSP00000365217.4:n.35-22C>A
ENST00000376059.7:c.197-22C>A	ENSP00000365227.3:n.197-22C>A
ENST00000466820.1:n.790C>A
ENST00000497362.5:n.792C>A
NM_001623.3:c.197-22C>A	NP_001614.3:n.197-22C>A
NM_004847.3:c.211C>A	NP_004838.1:p.His71Asn
NM_032955.1:c.35-22C>A	NP_116573.1:n.35-22C>A
XM_005248870.3:c.373C>A	XP_005248927.1:p.His125Asn
XM_005248871.1:c.260-22C>A	XP_005248928.1:n.260-22C>A
NM_001318970.1:c.35-22C>A	NP_001305899.1:n.35-22C>A
NM_001623.4:c.197-22C>A	NP_001614.3:n.197-22C>A
NM_032955.2:c.35-22C>A	NP_116573.1:n.35-22C>A
XM_005248870.4:c.373C>A	XP_005248927.1:p.His125Asn
XM_017010332.1:c.211C>A	XP_016865821.1:p.His71Asn
NM_001623.5:c.197-22C>A MANE Select	NP_001614.3:n.197-22C>A
NM_001318970.2:c.35-22C>A	NP_001305899.1:n.35-22C>A
NM_032955.3:c.35-22C>A	NP_116573.1:n.35-22C>A