Canonical Allele Identifier: CA2677994864

Gene: AIF1

Linked Data

• gnomAD v4: 6-31616169-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31616169G>T , CM000668.2:g.31616169G>T	GRCh38
NC_000006.11:g.31583946G>T , CM000668.1:g.31583946G>T	GRCh37
NC_000006.10:g.31691925G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000376059.8:c.196+24G>T MANE Select	ENSP00000365227.3:n.196+24G>T
ENST00000337917.11:c.238+24G>T	ENSP00000338776.7:n.238+24G>T
ENST00000376049.4:c.34+24G>T	ENSP00000365217.4:n.34+24G>T
ENST00000376059.7:c.196+24G>T	ENSP00000365227.3:n.196+24G>T
ENST00000466820.1:n.637G>T
ENST00000497362.5:n.639G>T
NM_001623.3:c.196+24G>T	NP_001614.3:n.196+24G>T
NM_004847.3:c.58G>T	NP_004838.1:p.Gly20Cys
NM_032955.1:c.34+24G>T	NP_116573.1:n.34+24G>T
XM_005248870.3:c.220G>T	XP_005248927.1:p.Gly74Cys
XM_005248871.1:c.259+24G>T	XP_005248928.1:n.259+24G>T
NM_001318970.1:c.34+24G>T	NP_001305899.1:n.34+24G>T
NM_001623.4:c.196+24G>T	NP_001614.3:n.196+24G>T
NM_032955.2:c.34+24G>T	NP_116573.1:n.34+24G>T
XM_005248870.4:c.220G>T	XP_005248927.1:p.Gly74Cys
XM_017010332.1:c.58G>T	XP_016865821.1:p.Gly20Cys
NM_001623.5:c.196+24G>T MANE Select	NP_001614.3:n.196+24G>T
NM_001318970.2:c.34+24G>T	NP_001305899.1:n.34+24G>T
NM_032955.3:c.34+24G>T	NP_116573.1:n.34+24G>T