Canonical Allele Identifier: CA3714797

Gene: AIF1

Linked Data

• dbSNP Id: rs776266089
• ExAC: 6:31583943 G / A
• gnomAD v2: 6-31583943-G-A
• gnomAD v3: 6-31616166-G-A
• gnomAD v4: 6-31616166-G-A
• MyVariant Identifiers: chr6:g.31583943G>A (hg19) ; chr6:g.31616166G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31616166G>A , CM000668.2:g.31616166G>A	GRCh38
NC_000006.11:g.31583943G>A , CM000668.1:g.31583943G>A	GRCh37
NC_000006.10:g.31691922G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376059.8:c.196+21G>A MANE Select	ENSP00000365227.3:n.196+21G>A
ENST00000337917.11:c.238+21G>A	ENSP00000338776.7:n.238+21G>A
ENST00000376049.4:c.34+21G>A	ENSP00000365217.4:n.34+21G>A
ENST00000376059.7:c.196+21G>A	ENSP00000365227.3:n.196+21G>A
ENST00000466820.1:n.634G>A
ENST00000497362.5:n.636G>A
NM_001623.3:c.196+21G>A	NP_001614.3:n.196+21G>A
NM_004847.3:c.55G>A	NP_004838.1:p.Gly19Arg
NM_032955.1:c.34+21G>A	NP_116573.1:n.34+21G>A
XM_005248870.3:c.217G>A	XP_005248927.1:p.Gly73Arg
XM_005248871.1:c.259+21G>A	XP_005248928.1:n.259+21G>A
NM_001318970.1:c.34+21G>A	NP_001305899.1:n.34+21G>A
NM_001623.4:c.196+21G>A	NP_001614.3:n.196+21G>A
NM_032955.2:c.34+21G>A	NP_116573.1:n.34+21G>A
XM_005248870.4:c.217G>A	XP_005248927.1:p.Gly73Arg
XM_017010332.1:c.55G>A	XP_016865821.1:p.Gly19Arg
NM_001623.5:c.196+21G>A MANE Select	NP_001614.3:n.196+21G>A
NM_001318970.2:c.34+21G>A	NP_001305899.1:n.34+21G>A
NM_032955.3:c.34+21G>A	NP_116573.1:n.34+21G>A