Canonical Allele Identifier: CA363326274

Gene: AIF1

Linked Data

• dbSNP Id: rs1236608400
• gnomAD v2: 6-31583897-T-G
• gnomAD v4: 6-31616120-T-G
• MyVariant Identifiers: chr6:g.31583897T>G (hg19) ; chr6:g.31616120T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31616120T>G , CM000668.2:g.31616120T>G	GRCh38
NC_000006.11:g.31583897T>G , CM000668.1:g.31583897T>G	GRCh37
NC_000006.10:g.31691876T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376059.8:c.171T>G MANE Select	ENSP00000365227.3:p.Phe57Leu
ENST00000337917.11:c.213T>G	ENSP00000338776.7:p.Phe71Leu
ENST00000376049.4:c.9T>G	ENSP00000365217.4:p.Phe3Leu
ENST00000376059.7:c.171T>G	ENSP00000365227.3:p.Phe57Leu
ENST00000466820.1:n.588T>G
ENST00000497362.5:n.590T>G
NM_001623.3:c.171T>G	NP_001614.3:p.Phe57Leu
NM_004847.3:c.9T>G	NP_004838.1:p.Phe3Leu
NM_032955.1:c.9T>G	NP_116573.1:p.Phe3Leu
XM_005248870.3:c.171T>G	XP_005248927.1:p.Phe57Leu
XM_005248871.1:c.234T>G	XP_005248928.1:p.Phe78Leu
NM_001318970.1:c.9T>G	NP_001305899.1:p.Phe3Leu
NM_001623.4:c.171T>G	NP_001614.3:p.Phe57Leu
NM_032955.2:c.9T>G	NP_116573.1:p.Phe3Leu
XM_005248870.4:c.171T>G	XP_005248927.1:p.Phe57Leu
XM_017010332.1:c.9T>G	XP_016865821.1:p.Phe3Leu
NM_001623.5:c.171T>G MANE Select	NP_001614.3:p.Phe57Leu
NM_001318970.2:c.9T>G	NP_001305899.1:p.Phe3Leu
NM_032955.3:c.9T>G	NP_116573.1:p.Phe3Leu