Canonical Allele Identifier: CA2677994931

Gene: AIF1

Linked Data

• gnomAD v4: 6-31616244-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31616244C>T , CM000668.2:g.31616244C>T	GRCh38
NC_000006.11:g.31584021C>T , CM000668.1:g.31584021C>T	GRCh37
NC_000006.10:g.31692000C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376059.8:c.197-100C>T MANE Select	ENSP00000365227.3:n.197-100C>T
ENST00000337917.11:c.239-100C>T	ENSP00000338776.7:n.239-100C>T
ENST00000376049.4:c.35-100C>T	ENSP00000365217.4:n.35-100C>T
ENST00000376059.7:c.197-100C>T	ENSP00000365227.3:n.197-100C>T
ENST00000466820.1:n.712C>T
ENST00000497362.5:n.714C>T
NM_001623.3:c.197-100C>T	NP_001614.3:n.197-100C>T
NM_004847.3:c.133C>T	NP_004838.1:p.Pro45Ser
NM_032955.1:c.35-100C>T	NP_116573.1:n.35-100C>T
XM_005248870.3:c.295C>T	XP_005248927.1:p.Pro99Ser
XM_005248871.1:c.260-100C>T	XP_005248928.1:n.260-100C>T
NM_001318970.1:c.35-100C>T	NP_001305899.1:n.35-100C>T
NM_001623.4:c.197-100C>T	NP_001614.3:n.197-100C>T
NM_032955.2:c.35-100C>T	NP_116573.1:n.35-100C>T
XM_005248870.4:c.295C>T	XP_005248927.1:p.Pro99Ser
XM_017010332.1:c.133C>T	XP_016865821.1:p.Pro45Ser
NM_001623.5:c.197-100C>T MANE Select	NP_001614.3:n.197-100C>T
NM_001318970.2:c.35-100C>T	NP_001305899.1:n.35-100C>T
NM_032955.3:c.35-100C>T	NP_116573.1:n.35-100C>T