Canonical Allele Identifier: CA136845820

Gene: AIF1

Linked Data

• dbSNP Id: rs927690679
• gnomAD v2: 6-31584066-G-C
• gnomAD v3: 6-31616289-G-C
• gnomAD v4: 6-31616289-G-C
• MyVariant Identifiers: chr6:g.31584066G>C (hg19) ; chr6:g.31616289G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31616289G>C , CM000668.2:g.31616289G>C	GRCh38
NC_000006.11:g.31584066G>C , CM000668.1:g.31584066G>C	GRCh37
NC_000006.10:g.31692045G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376059.8:c.197-55G>C MANE Select	ENSP00000365227.3:n.197-55G>C
ENST00000337917.11:c.239-55G>C	ENSP00000338776.7:n.239-55G>C
ENST00000376049.4:c.35-55G>C	ENSP00000365217.4:n.35-55G>C
ENST00000376059.7:c.197-55G>C	ENSP00000365227.3:n.197-55G>C
ENST00000466820.1:n.757G>C
ENST00000497362.5:n.759G>C
NM_001623.3:c.197-55G>C	NP_001614.3:n.197-55G>C
NM_004847.3:c.178G>C	NP_004838.1:p.Glu60Gln
NM_032955.1:c.35-55G>C	NP_116573.1:n.35-55G>C
XM_005248870.3:c.340G>C	XP_005248927.1:p.Glu114Gln
XM_005248871.1:c.260-55G>C	XP_005248928.1:n.260-55G>C
NM_001318970.1:c.35-55G>C	NP_001305899.1:n.35-55G>C
NM_001623.4:c.197-55G>C	NP_001614.3:n.197-55G>C
NM_032955.2:c.35-55G>C	NP_116573.1:n.35-55G>C
XM_005248870.4:c.340G>C	XP_005248927.1:p.Glu114Gln
XM_017010332.1:c.178G>C	XP_016865821.1:p.Glu60Gln
NM_001623.5:c.197-55G>C MANE Select	NP_001614.3:n.197-55G>C
NM_001318970.2:c.35-55G>C	NP_001305899.1:n.35-55G>C
NM_032955.3:c.35-55G>C	NP_116573.1:n.35-55G>C