Canonical Allele Identifier: CA363326235

Gene: AIF1

Linked Data

• ClinVar Variation Id: 3102511
• ClinVar RCV Id: RCV004395901
• dbSNP Id: rs1774327927
• gnomAD v4: 6-31616118-T-C
• MyVariant Identifiers: chr6:g.31583895T>C (hg19) ; chr6:g.31616118T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31616118T>C , CM000668.2:g.31616118T>C	GRCh38
NC_000006.11:g.31583895T>C , CM000668.1:g.31583895T>C	GRCh37
NC_000006.10:g.31691874T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376059.8:c.169T>C MANE Select	ENSP00000365227.3:p.Phe57Leu
ENST00000337917.11:c.211T>C	ENSP00000338776.7:p.Phe71Leu
ENST00000376049.4:c.7T>C	ENSP00000365217.4:p.Phe3Leu
ENST00000376059.7:c.169T>C	ENSP00000365227.3:p.Phe57Leu
ENST00000466820.1:n.586T>C
ENST00000497362.5:n.588T>C
NM_001623.3:c.169T>C	NP_001614.3:p.Phe57Leu
NM_004847.3:c.7T>C	NP_004838.1:p.Phe3Leu
NM_032955.1:c.7T>C	NP_116573.1:p.Phe3Leu
XM_005248870.3:c.169T>C	XP_005248927.1:p.Phe57Leu
XM_005248871.1:c.232T>C	XP_005248928.1:p.Phe78Leu
NM_001318970.1:c.7T>C	NP_001305899.1:p.Phe3Leu
NM_001623.4:c.169T>C	NP_001614.3:p.Phe57Leu
NM_032955.2:c.7T>C	NP_116573.1:p.Phe3Leu
XM_005248870.4:c.169T>C	XP_005248927.1:p.Phe57Leu
XM_017010332.1:c.7T>C	XP_016865821.1:p.Phe3Leu
NM_001623.5:c.169T>C MANE Select	NP_001614.3:p.Phe57Leu
NM_001318970.2:c.7T>C	NP_001305899.1:p.Phe3Leu
NM_032955.3:c.7T>C	NP_116573.1:p.Phe3Leu