Canonical Allele Identifier: CA3714827

Gene: AIF1

Linked Data

• dbSNP Id: rs766756688
• ExAC: 6:31584103 C / A
• gnomAD v2: 6-31584103-C-A
• gnomAD v3: 6-31616326-C-A
• gnomAD v4: 6-31616326-C-A
• MyVariant Identifiers: chr6:g.31584103C>A (hg19) ; chr6:g.31616326C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31616326C>A , CM000668.2:g.31616326C>A	GRCh38
NC_000006.11:g.31584103C>A , CM000668.1:g.31584103C>A	GRCh37
NC_000006.10:g.31692082C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376059.8:c.197-18C>A MANE Select	ENSP00000365227.3:n.197-18C>A
ENST00000337917.11:c.239-18C>A	ENSP00000338776.7:n.239-18C>A
ENST00000376049.4:c.35-18C>A	ENSP00000365217.4:n.35-18C>A
ENST00000376059.7:c.197-18C>A	ENSP00000365227.3:n.197-18C>A
ENST00000466820.1:n.794C>A
ENST00000497362.5:n.796C>A
NM_001623.3:c.197-18C>A	NP_001614.3:n.197-18C>A
NM_004847.3:c.215C>A	NP_004838.1:p.Pro72His
NM_032955.1:c.35-18C>A	NP_116573.1:n.35-18C>A
XM_005248870.3:c.377C>A	XP_005248927.1:p.Pro126His
XM_005248871.1:c.260-18C>A	XP_005248928.1:n.260-18C>A
NM_001318970.1:c.35-18C>A	NP_001305899.1:n.35-18C>A
NM_001623.4:c.197-18C>A	NP_001614.3:n.197-18C>A
NM_032955.2:c.35-18C>A	NP_116573.1:n.35-18C>A
XM_005248870.4:c.377C>A	XP_005248927.1:p.Pro126His
XM_017010332.1:c.215C>A	XP_016865821.1:p.Pro72His
NM_001623.5:c.197-18C>A MANE Select	NP_001614.3:n.197-18C>A
NM_001318970.2:c.35-18C>A	NP_001305899.1:n.35-18C>A
NM_032955.3:c.35-18C>A	NP_116573.1:n.35-18C>A