Canonical Allele Identifier: CA3714787
Gene: AIF1 HGNC NCBI

Linked Data

dbSNP Id: rs757593776
gnomAD v2: 6-31583882-G-C
gnomAD v4: 6-31616105-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31616105G>C , CM000668.2:g.31616105G>C GRCh38
NC_000006.11:g.31583882G>C , CM000668.1:g.31583882G>C GRCh37
NC_000006.10:g.31691861G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000376059.8:c.156G>C MANE Select ENSP00000365227.3:p.Glu52Asp
ENST00000337917.11:c.198G>C ENSP00000338776.7:p.Glu66Asp
ENST00000376049.4:c.-7G>C ENSP00000365217.4:n.-7G>C
ENST00000376059.7:c.156G>C ENSP00000365227.3:p.Glu52Asp
ENST00000466820.1:n.573G>C
ENST00000497362.5:n.575G>C
NM_001623.3:c.156G>C NP_001614.3:p.Glu52Asp
NM_004847.3:c.-7G>C NP_004838.1:n.-7G>C
NM_032955.1:c.-7G>C NP_116573.1:n.-7G>C
XM_005248870.3:c.156G>C XP_005248927.1:p.Glu52Asp
XM_005248871.1:c.219G>C XP_005248928.1:p.Glu73Asp
NM_001318970.1:c.-7G>C NP_001305899.1:n.-7G>C
NM_001623.4:c.156G>C NP_001614.3:p.Glu52Asp
NM_032955.2:c.-7G>C NP_116573.1:n.-7G>C
XM_005248870.4:c.156G>C XP_005248927.1:p.Glu52Asp
XM_017010332.1:c.-7G>C XP_016865821.1:n.-7G>C
NM_001623.5:c.156G>C MANE Select NP_001614.3:p.Glu52Asp
NM_001318970.2:c.-7G>C NP_001305899.1:n.-7G>C
NM_032955.3:c.-7G>C NP_116573.1:n.-7G>C