Canonical Allele Identifier: CA3714781

Gene: AIF1

Linked Data

• dbSNP Id: rs759076922
• ExAC: 6:31583843 G / A
• gnomAD v3: 6-31616066-G-A
• gnomAD v4: 6-31616066-G-A
• MyVariant Identifiers: chr6:g.31583843G>A (hg19) ; chr6:g.31616066G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31616066G>A , CM000668.2:g.31616066G>A	GRCh38
NC_000006.11:g.31583843G>A , CM000668.1:g.31583843G>A	GRCh37
NC_000006.10:g.31691822G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000376059.8:c.155-38G>A MANE Select	ENSP00000365227.3:n.155-38G>A
ENST00000337917.11:c.197-38G>A	ENSP00000338776.7:n.197-38G>A
ENST00000376049.4:c.-46G>A	ENSP00000365217.4:n.-46G>A
ENST00000376059.7:c.155-38G>A	ENSP00000365227.3:n.155-38G>A
ENST00000466820.1:n.534G>A
ENST00000497362.5:n.536G>A
NM_001623.3:c.155-38G>A	NP_001614.3:n.155-38G>A
NM_004847.3:c.-46G>A	NP_004838.1:n.-46G>A
NM_032955.1:c.-46G>A	NP_116573.1:n.-46G>A
XM_005248870.3:c.155-38G>A	XP_005248927.1:n.155-38G>A
XM_005248871.1:c.218-38G>A	XP_005248928.1:n.218-38G>A
NM_001318970.1:c.-8-38G>A	NP_001305899.1:n.-8-38G>A
NM_001623.4:c.155-38G>A	NP_001614.3:n.155-38G>A
NM_032955.2:c.-46G>A	NP_116573.1:n.-46G>A
XM_005248870.4:c.155-38G>A	XP_005248927.1:n.155-38G>A
XM_017010332.1:c.-8-38G>A	XP_016865821.1:n.-8-38G>A
NM_001623.5:c.155-38G>A MANE Select	NP_001614.3:n.155-38G>A
NM_001318970.2:c.-8-38G>A	NP_001305899.1:n.-8-38G>A
NM_032955.3:c.-46G>A	NP_116573.1:n.-46G>A