Canonical Allele Identifier: CA3714810

Gene: AIF1

Linked Data

• dbSNP Id: rs749530214
• ExAC: 6:31584024 C / T
• gnomAD v2: 6-31584024-C-T
• gnomAD v4: 6-31616247-C-T
• MyVariant Identifiers: chr6:g.31584024C>T (hg19) ; chr6:g.31616247C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31616247C>T , CM000668.2:g.31616247C>T	GRCh38
NC_000006.11:g.31584024C>T , CM000668.1:g.31584024C>T	GRCh37
NC_000006.10:g.31692003C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376059.8:c.197-97C>T MANE Select	ENSP00000365227.3:n.197-97C>T
ENST00000337917.11:c.239-97C>T	ENSP00000338776.7:n.239-97C>T
ENST00000376049.4:c.35-97C>T	ENSP00000365217.4:n.35-97C>T
ENST00000376059.7:c.197-97C>T	ENSP00000365227.3:n.197-97C>T
ENST00000466820.1:n.715C>T
ENST00000497362.5:n.717C>T
NM_001623.3:c.197-97C>T	NP_001614.3:n.197-97C>T
NM_004847.3:c.136C>T	NP_004838.1:p.Pro46Ser
NM_032955.1:c.35-97C>T	NP_116573.1:n.35-97C>T
XM_005248870.3:c.298C>T	XP_005248927.1:p.Pro100Ser
XM_005248871.1:c.260-97C>T	XP_005248928.1:n.260-97C>T
NM_001318970.1:c.35-97C>T	NP_001305899.1:n.35-97C>T
NM_001623.4:c.197-97C>T	NP_001614.3:n.197-97C>T
NM_032955.2:c.35-97C>T	NP_116573.1:n.35-97C>T
XM_005248870.4:c.298C>T	XP_005248927.1:p.Pro100Ser
XM_017010332.1:c.136C>T	XP_016865821.1:p.Pro46Ser
NM_001623.5:c.197-97C>T MANE Select	NP_001614.3:n.197-97C>T
NM_001318970.2:c.35-97C>T	NP_001305899.1:n.35-97C>T
NM_032955.3:c.35-97C>T	NP_116573.1:n.35-97C>T