Canonical Allele Identifier: CA2677994839

Gene: AIF1

Linked Data

• gnomAD v4: 6-31616153-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31616153A>G , CM000668.2:g.31616153A>G	GRCh38
NC_000006.11:g.31583930A>G , CM000668.1:g.31583930A>G	GRCh37
NC_000006.10:g.31691909A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376059.8:c.196+8A>G MANE Select	ENSP00000365227.3:n.196+8A>G
ENST00000337917.11:c.238+8A>G	ENSP00000338776.7:n.238+8A>G
ENST00000376049.4:c.34+8A>G	ENSP00000365217.4:n.34+8A>G
ENST00000376059.7:c.196+8A>G	ENSP00000365227.3:n.196+8A>G
ENST00000466820.1:n.621A>G
ENST00000497362.5:n.623A>G
NM_001623.3:c.196+8A>G	NP_001614.3:n.196+8A>G
NM_004847.3:c.42A>G	NP_004838.1:p.Lys14=
NM_032955.1:c.34+8A>G	NP_116573.1:n.34+8A>G
XM_005248870.3:c.204A>G	XP_005248927.1:p.Lys68=
XM_005248871.1:c.259+8A>G	XP_005248928.1:n.259+8A>G
NM_001318970.1:c.34+8A>G	NP_001305899.1:n.34+8A>G
NM_001623.4:c.196+8A>G	NP_001614.3:n.196+8A>G
NM_032955.2:c.34+8A>G	NP_116573.1:n.34+8A>G
XM_005248870.4:c.204A>G	XP_005248927.1:p.Lys68=
XM_017010332.1:c.42A>G	XP_016865821.1:p.Lys14=
NM_001623.5:c.196+8A>G MANE Select	NP_001614.3:n.196+8A>G
NM_001318970.2:c.34+8A>G	NP_001305899.1:n.34+8A>G
NM_032955.3:c.34+8A>G	NP_116573.1:n.34+8A>G