Canonical Allele Identifier: CA3714821

Gene: AIF1

Linked Data

• ClinVar Variation Id: 2458743
• ClinVar RCV Id: RCV004249007
• dbSNP Id: rs370403479
• ExAC: 6:31584076 A / G
• gnomAD v2: 6-31584076-A-G
• gnomAD v3: 6-31616299-A-G
• gnomAD v4: 6-31616299-A-G
• MyVariant Identifiers: chr6:g.31584076A>G (hg19) ; chr6:g.31616299A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31616299A>G , CM000668.2:g.31616299A>G	GRCh38
NC_000006.11:g.31584076A>G , CM000668.1:g.31584076A>G	GRCh37
NC_000006.10:g.31692055A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376059.8:c.197-45A>G MANE Select	ENSP00000365227.3:n.197-45A>G
ENST00000337917.11:c.239-45A>G	ENSP00000338776.7:n.239-45A>G
ENST00000376049.4:c.35-45A>G	ENSP00000365217.4:n.35-45A>G
ENST00000376059.7:c.197-45A>G	ENSP00000365227.3:n.197-45A>G
ENST00000466820.1:n.767A>G
ENST00000497362.5:n.769A>G
NM_001623.3:c.197-45A>G	NP_001614.3:n.197-45A>G
NM_004847.3:c.188A>G	NP_004838.1:p.Glu63Gly
NM_032955.1:c.35-45A>G	NP_116573.1:n.35-45A>G
XM_005248870.3:c.350A>G	XP_005248927.1:p.Glu117Gly
XM_005248871.1:c.260-45A>G	XP_005248928.1:n.260-45A>G
NM_001318970.1:c.35-45A>G	NP_001305899.1:n.35-45A>G
NM_001623.4:c.197-45A>G	NP_001614.3:n.197-45A>G
NM_032955.2:c.35-45A>G	NP_116573.1:n.35-45A>G
XM_005248870.4:c.350A>G	XP_005248927.1:p.Glu117Gly
XM_017010332.1:c.188A>G	XP_016865821.1:p.Glu63Gly
NM_001623.5:c.197-45A>G MANE Select	NP_001614.3:n.197-45A>G
NM_001318970.2:c.35-45A>G	NP_001305899.1:n.35-45A>G
NM_032955.3:c.35-45A>G	NP_116573.1:n.35-45A>G