Canonical Allele Identifier: CA1087479449
Gene: AIF1 HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31616050T>A , CM000668.2:g.31616050T>A GRCh38
NC_000006.11:g.31583827T>A , CM000668.1:g.31583827T>A GRCh37
NC_000006.10:g.31691806T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000376059.8:c.155-54T>A MANE Select ENSP00000365227.3:n.155-54T>A
ENST00000337917.11:c.197-54T>A ENSP00000338776.7:n.197-54T>A
ENST00000376049.4:c.-62T>A ENSP00000365217.4:n.-62T>A
ENST00000376059.7:c.155-54T>A ENSP00000365227.3:n.155-54T>A
ENST00000466820.1:n.518T>A
ENST00000497362.5:n.520T>A
NM_001623.3:c.155-54T>A NP_001614.3:n.155-54T>A
NM_004847.3:c.-62T>A NP_004838.1:n.-62T>A
NM_032955.1:c.-62T>A NP_116573.1:n.-62T>A
XM_005248870.3:c.155-54T>A XP_005248927.1:n.155-54T>A
XM_005248871.1:c.218-54T>A XP_005248928.1:n.218-54T>A
NM_001318970.1:c.-8-54T>A NP_001305899.1:n.-8-54T>A
NM_001623.4:c.155-54T>A NP_001614.3:n.155-54T>A
NM_032955.2:c.-62T>A NP_116573.1:n.-62T>A
XM_005248870.4:c.155-54T>A XP_005248927.1:n.155-54T>A
XM_017010332.1:c.-8-54T>A XP_016865821.1:n.-8-54T>A
NM_001623.5:c.155-54T>A MANE Select NP_001614.3:n.155-54T>A
NM_001318970.2:c.-8-54T>A NP_001305899.1:n.-8-54T>A
NM_032955.3:c.-62T>A NP_116573.1:n.-62T>A