Canonical Allele Identifier: CA12187875

Gene: AIF1

Linked Data

• dbSNP Id: rs2259571
• gnomAD v2: 6-31583827-T-G
• gnomAD v3: 6-31616050-T-G
• gnomAD v4: 6-31616050-T-G
• MyVariant Identifiers: chr6:g.31583827T>G (hg19) ; chr6:g.31616050T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31616050T>G , CM000668.2:g.31616050T>G	GRCh38
NC_000006.11:g.31583827T>G , CM000668.1:g.31583827T>G	GRCh37
NC_000006.10:g.31691806T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000376059.8:c.155-54T>G MANE Select	ENSP00000365227.3:n.155-54T>G
ENST00000337917.11:c.197-54T>G	ENSP00000338776.7:n.197-54T>G
ENST00000376049.4:c.-62T>G	ENSP00000365217.4:n.-62T>G
ENST00000376059.7:c.155-54T>G	ENSP00000365227.3:n.155-54T>G
ENST00000466820.1:n.518T>G
ENST00000497362.5:n.520T>G
NM_001623.3:c.155-54T>G	NP_001614.3:n.155-54T>G
NM_004847.3:c.-62T>G	NP_004838.1:n.-62T>G
NM_032955.1:c.-62T>G	NP_116573.1:n.-62T>G
XM_005248870.3:c.155-54T>G	XP_005248927.1:n.155-54T>G
XM_005248871.1:c.218-54T>G	XP_005248928.1:n.218-54T>G
NM_001318970.1:c.-8-54T>G	NP_001305899.1:n.-8-54T>G
NM_001623.4:c.155-54T>G	NP_001614.3:n.155-54T>G
NM_032955.2:c.-62T>G	NP_116573.1:n.-62T>G
XM_005248870.4:c.155-54T>G	XP_005248927.1:n.155-54T>G
XM_017010332.1:c.-8-54T>G	XP_016865821.1:n.-8-54T>G
NM_001623.5:c.155-54T>G MANE Select	NP_001614.3:n.155-54T>G
NM_001318970.2:c.-8-54T>G	NP_001305899.1:n.-8-54T>G
NM_032955.3:c.-62T>G	NP_116573.1:n.-62T>G