Canonical Allele Identifier: CA3714789

Gene: AIF1

Linked Data

• dbSNP Id: rs767746795
• ExAC: 6:31583915 C / T
• gnomAD v2: 6-31583915-C-T
• gnomAD v3: 6-31616138-C-T
• gnomAD v4: 6-31616138-C-T
• MyVariant Identifiers: chr6:g.31583915C>T (hg19) ; chr6:g.31616138C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31616138C>T , CM000668.2:g.31616138C>T	GRCh38
NC_000006.11:g.31583915C>T , CM000668.1:g.31583915C>T	GRCh37
NC_000006.10:g.31691894C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376059.8:c.189C>T MANE Select	ENSP00000365227.3:p.Gly63=
ENST00000337917.11:c.231C>T	ENSP00000338776.7:p.Gly77=
ENST00000376049.4:c.27C>T	ENSP00000365217.4:p.Gly9=
ENST00000376059.7:c.189C>T	ENSP00000365227.3:p.Gly63=
ENST00000466820.1:n.606C>T
ENST00000497362.5:n.608C>T
NM_001623.3:c.189C>T	NP_001614.3:p.Gly63=
NM_004847.3:c.27C>T	NP_004838.1:p.Gly9=
NM_032955.1:c.27C>T	NP_116573.1:p.Gly9=
XM_005248870.3:c.189C>T	XP_005248927.1:p.Gly63=
XM_005248871.1:c.252C>T	XP_005248928.1:p.Gly84=
NM_001318970.1:c.27C>T	NP_001305899.1:p.Gly9=
NM_001623.4:c.189C>T	NP_001614.3:p.Gly63=
NM_032955.2:c.27C>T	NP_116573.1:p.Gly9=
XM_005248870.4:c.189C>T	XP_005248927.1:p.Gly63=
XM_017010332.1:c.27C>T	XP_016865821.1:p.Gly9=
NM_001623.5:c.189C>T MANE Select	NP_001614.3:p.Gly63=
NM_001318970.2:c.27C>T	NP_001305899.1:p.Gly9=
NM_032955.3:c.27C>T	NP_116573.1:p.Gly9=