Canonical Allele Identifier: CA3404412

Gene: IRF1

Linked Data

• dbSNP Id: rs373537420
• ExAC: 5:131819688 G / C
• gnomAD v2: 5-131819688-G-C
• gnomAD v3: 5-132483996-G-C
• gnomAD v4: 5-132483996-G-C
• MyVariant Identifiers: chr5:g.131819688G>C (hg19) ; chr5:g.132483996G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132483996G>C , CM000667.2:g.132483996G>C	GRCh38
NC_000005.9:g.131819688G>C , CM000667.1:g.131819688G>C	GRCh37
NC_000005.8:g.131847587G>C	NCBI36
NG_011450.1:g.11778C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245414.9:c.933C>G MANE Select	ENSP00000245414.4:p.Thr311=
ENST00000638452.2:c.-169+34307G>C	ENSP00000492349.2:n.-169+34307G>C
ENST00000638504.1:n.206+64056G>C
ENST00000638568.2:c.-311+34307G>C	ENSP00000491158.2:n.-311+34307G>C
ENST00000639899.1:n.289+34307G>C
ENST00000640655.2:c.-637-2196G>C	ENSP00000491596.2:n.-637-2196G>C
ENST00000679743.1:c.554C>G	ENSP00000505257.1:n.554C>G
ENST00000679786.1:n.130+2561C>G
ENST00000679860.1:c.221C>G
ENST00000679921.1:c.292+2561C>G	ENSP00000505766.1:n.292+2561C>G
ENST00000679945.1:n.130+2561C>G
ENST00000679964.1:n.50+1671C>G
ENST00000680139.1:c.747C>G	ENSP00000506148.1:p.Thr249=
ENST00000680380.1:n.136+366C>G
ENST00000680562.1:c.381C>G	ENSP00000505853.1:p.Thr127=
ENST00000680594.1:n.136+366C>G
ENST00000680903.1:c.810C>G	ENSP00000505720.1:p.Thr270=
ENST00000681049.1:n.50+1671C>G
ENST00000681240.1:c.183C>G	ENSP00000506034.1:p.Thr61=
ENST00000681336.1:c.180C>G	ENSP00000505242.1:p.Thr60=
ENST00000681462.1:c.770C>G
ENST00000681595.1:c.494C>G	ENSP00000506023.1:n.494C>G
ENST00000681634.1:n.136+366C>G
ENST00000681694.1:c.245C>G	ENSP00000506552.1:n.245C>G
ENST00000681715.1:c.431C>G	ENSP00000506545.1:n.431C>G
ENST00000245414.8:c.933C>G	ENSP00000245414.4:p.Thr311=
ENST00000405885.6:c.933C>G	ENSP00000384406.1:p.Thr311=
ENST00000472045.1:n.4242C>G
NM_002198.2:c.933C>G	NP_002189.1:p.Thr311=
XM_011543378.1:c.810C>G	XP_011541680.1:p.Thr270=
XM_011543379.1:c.681C>G	XP_011541681.1:p.Thr227=
XR_427711.2:n.994C>G
NM_001354924.1:c.810C>G	NP_001341853.1:p.Thr270=
NM_001354925.1:c.747C>G	NP_001341854.1:p.Thr249=
NR_149068.1:n.994C>G
XM_011543379.2:c.681C>G	XP_011541681.1:p.Thr227=
NM_002198.3:c.933C>G MANE Select	NP_002189.1:p.Thr311=