Canonical Allele Identifier: CA823905181

Gene: AIF1

Linked Data

• dbSNP Id: rs1489658254
• gnomAD v3: 6-31616331-C-A
• gnomAD v4: 6-31616331-C-A
• MyVariant Identifiers: chr6:g.31584108C>A (hg19) ; chr6:g.31616331C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31616331C>A , CM000668.2:g.31616331C>A	GRCh38
NC_000006.11:g.31584108C>A , CM000668.1:g.31584108C>A	GRCh37
NC_000006.10:g.31692087C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376059.8:c.197-13C>A MANE Select	ENSP00000365227.3:n.197-13C>A
ENST00000337917.11:c.239-13C>A	ENSP00000338776.7:n.239-13C>A
ENST00000376049.4:c.35-13C>A	ENSP00000365217.4:n.35-13C>A
ENST00000376059.7:c.197-13C>A	ENSP00000365227.3:n.197-13C>A
ENST00000466820.1:n.799C>A
ENST00000497362.5:n.801C>A
NM_001623.3:c.197-13C>A	NP_001614.3:n.197-13C>A
NM_004847.3:c.220C>A	NP_004838.1:p.Pro74Thr
NM_032955.1:c.35-13C>A	NP_116573.1:n.35-13C>A
XM_005248870.3:c.382C>A	XP_005248927.1:p.Pro128Thr
XM_005248871.1:c.260-13C>A	XP_005248928.1:n.260-13C>A
NM_001318970.1:c.35-13C>A	NP_001305899.1:n.35-13C>A
NM_001623.4:c.197-13C>A	NP_001614.3:n.197-13C>A
NM_032955.2:c.35-13C>A	NP_116573.1:n.35-13C>A
XM_005248870.4:c.382C>A	XP_005248927.1:p.Pro128Thr
XM_017010332.1:c.220C>A	XP_016865821.1:p.Pro74Thr
NM_001623.5:c.197-13C>A MANE Select	NP_001614.3:n.197-13C>A
NM_001318970.2:c.35-13C>A	NP_001305899.1:n.35-13C>A
NM_032955.3:c.35-13C>A	NP_116573.1:n.35-13C>A