Canonical Allele Identifier: CA566690763

Gene: AIF1

Linked Data

• dbSNP Id: rs1392193241
• gnomAD v2: 6-31584117-C-T
• gnomAD v4: 6-31616340-C-T
• MyVariant Identifiers: chr6:g.31584117C>T (hg19) ; chr6:g.31616340C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31616340C>T , CM000668.2:g.31616340C>T	GRCh38
NC_000006.11:g.31584117C>T , CM000668.1:g.31584117C>T	GRCh37
NC_000006.10:g.31692096C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376059.8:c.197-4C>T MANE Select	ENSP00000365227.3:n.197-4C>T
ENST00000337917.11:c.239-4C>T	ENSP00000338776.7:n.239-4C>T
ENST00000376049.4:c.35-4C>T	ENSP00000365217.4:n.35-4C>T
ENST00000376059.7:c.197-4C>T	ENSP00000365227.3:n.197-4C>T
ENST00000466820.1:n.808C>T
ENST00000497362.5:n.810C>T
NM_001623.3:c.197-4C>T	NP_001614.3:n.197-4C>T
NM_004847.3:c.229C>T	NP_004838.1:p.Pro77Ser
NM_032955.1:c.35-4C>T	NP_116573.1:n.35-4C>T
XM_005248870.3:c.391C>T	XP_005248927.1:p.Pro131Ser
XM_005248871.1:c.260-4C>T	XP_005248928.1:n.260-4C>T
NM_001318970.1:c.35-4C>T	NP_001305899.1:n.35-4C>T
NM_001623.4:c.197-4C>T	NP_001614.3:n.197-4C>T
NM_032955.2:c.35-4C>T	NP_116573.1:n.35-4C>T
XM_005248870.4:c.391C>T	XP_005248927.1:p.Pro131Ser
XM_017010332.1:c.229C>T	XP_016865821.1:p.Pro77Ser
NM_001623.5:c.197-4C>T MANE Select	NP_001614.3:n.197-4C>T
NM_001318970.2:c.35-4C>T	NP_001305899.1:n.35-4C>T
NM_032955.3:c.35-4C>T	NP_116573.1:n.35-4C>T