Canonical Allele Identifier: CA363326249

Gene: AIF1

Linked Data

• dbSNP Id: rs1774328285
• MyVariant Identifiers: chr6:g.31583896T>G (hg19) ; chr6:g.31616119T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31616119T>G , CM000668.2:g.31616119T>G	GRCh38
NC_000006.11:g.31583896T>G , CM000668.1:g.31583896T>G	GRCh37
NC_000006.10:g.31691875T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376059.8:c.170T>G MANE Select	ENSP00000365227.3:p.Phe57Cys
ENST00000337917.11:c.212T>G	ENSP00000338776.7:p.Phe71Cys
ENST00000376049.4:c.8T>G	ENSP00000365217.4:p.Phe3Cys
ENST00000376059.7:c.170T>G	ENSP00000365227.3:p.Phe57Cys
ENST00000466820.1:n.587T>G
ENST00000497362.5:n.589T>G
NM_001623.3:c.170T>G	NP_001614.3:p.Phe57Cys
NM_004847.3:c.8T>G	NP_004838.1:p.Phe3Cys
NM_032955.1:c.8T>G	NP_116573.1:p.Phe3Cys
XM_005248870.3:c.170T>G	XP_005248927.1:p.Phe57Cys
XM_005248871.1:c.233T>G	XP_005248928.1:p.Phe78Cys
NM_001318970.1:c.8T>G	NP_001305899.1:p.Phe3Cys
NM_001623.4:c.170T>G	NP_001614.3:p.Phe57Cys
NM_032955.2:c.8T>G	NP_116573.1:p.Phe3Cys
XM_005248870.4:c.170T>G	XP_005248927.1:p.Phe57Cys
XM_017010332.1:c.8T>G	XP_016865821.1:p.Phe3Cys
NM_001623.5:c.170T>G MANE Select	NP_001614.3:p.Phe57Cys
NM_001318970.2:c.8T>G	NP_001305899.1:p.Phe3Cys
NM_032955.3:c.8T>G	NP_116573.1:p.Phe3Cys