Canonical Allele Identifier: CA363326218

Gene: AIF1

Linked Data

• gnomAD v4: 6-31616117-G-C
• MyVariant Identifiers: chr6:g.31583894G>C (hg19) ; chr6:g.31616117G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31616117G>C , CM000668.2:g.31616117G>C	GRCh38
NC_000006.11:g.31583894G>C , CM000668.1:g.31583894G>C	GRCh37
NC_000006.10:g.31691873G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376059.8:c.168G>C MANE Select	ENSP00000365227.3:p.Glu56Asp
ENST00000337917.11:c.210G>C	ENSP00000338776.7:p.Glu70Asp
ENST00000376049.4:c.6G>C	ENSP00000365217.4:p.Glu2Asp
ENST00000376059.7:c.168G>C	ENSP00000365227.3:p.Glu56Asp
ENST00000466820.1:n.585G>C
ENST00000497362.5:n.587G>C
NM_001623.3:c.168G>C	NP_001614.3:p.Glu56Asp
NM_004847.3:c.6G>C	NP_004838.1:p.Glu2Asp
NM_032955.1:c.6G>C	NP_116573.1:p.Glu2Asp
XM_005248870.3:c.168G>C	XP_005248927.1:p.Glu56Asp
XM_005248871.1:c.231G>C	XP_005248928.1:p.Glu77Asp
NM_001318970.1:c.6G>C	NP_001305899.1:p.Glu2Asp
NM_001623.4:c.168G>C	NP_001614.3:p.Glu56Asp
NM_032955.2:c.6G>C	NP_116573.1:p.Glu2Asp
XM_005248870.4:c.168G>C	XP_005248927.1:p.Glu56Asp
XM_017010332.1:c.6G>C	XP_016865821.1:p.Glu2Asp
NM_001623.5:c.168G>C MANE Select	NP_001614.3:p.Glu56Asp
NM_001318970.2:c.6G>C	NP_001305899.1:p.Glu2Asp
NM_032955.3:c.6G>C	NP_116573.1:p.Glu2Asp