Canonical Allele Identifier: CA2711422895
Gene: AIF1 HGNC NCBI

Linked Data

dbSNP Id: rs2150460098

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31616230A>G , CM000668.2:g.31616230A>G GRCh38
NC_000006.11:g.31584007A>G , CM000668.1:g.31584007A>G GRCh37
NC_000006.10:g.31691986A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000376059.8:c.196+85A>G MANE Select ENSP00000365227.3:n.196+85A>G
ENST00000337917.11:c.238+85A>G ENSP00000338776.7:n.238+85A>G
ENST00000376049.4:c.34+85A>G ENSP00000365217.4:n.34+85A>G
ENST00000376059.7:c.196+85A>G ENSP00000365227.3:n.196+85A>G
ENST00000466820.1:n.698A>G
ENST00000497362.5:n.700A>G
NM_001623.3:c.196+85A>G NP_001614.3:n.196+85A>G
NM_004847.3:c.119A>G NP_004838.1:p.Asp40Gly
NM_032955.1:c.34+85A>G NP_116573.1:n.34+85A>G
XM_005248870.3:c.281A>G XP_005248927.1:p.Asp94Gly
XM_005248871.1:c.259+85A>G XP_005248928.1:n.259+85A>G
NM_001318970.1:c.34+85A>G NP_001305899.1:n.34+85A>G
NM_001623.4:c.196+85A>G NP_001614.3:n.196+85A>G
NM_032955.2:c.34+85A>G NP_116573.1:n.34+85A>G
XM_005248870.4:c.281A>G XP_005248927.1:p.Asp94Gly
XM_017010332.1:c.119A>G XP_016865821.1:p.Asp40Gly
NM_001623.5:c.196+85A>G MANE Select NP_001614.3:n.196+85A>G
NM_001318970.2:c.34+85A>G NP_001305899.1:n.34+85A>G
NM_032955.3:c.34+85A>G NP_116573.1:n.34+85A>G