Canonical Allele Identifier: CA446358662

Gene: IRF1

Linked Data

• dbSNP Id: rs1452838853
• gnomAD v2: 5-131819763-A-G
• gnomAD v4: 5-132484071-A-G
• MyVariant Identifiers: chr5:g.131819763A>G (hg19) ; chr5:g.132484071A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132484071A>G , CM000667.2:g.132484071A>G	GRCh38
NC_000005.9:g.131819763A>G , CM000667.1:g.131819763A>G	GRCh37
NC_000005.8:g.131847662A>G	NCBI36
NG_011450.1:g.11703T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245414.9:c.858T>C MANE Select	ENSP00000245414.4:p.Asp286=
ENST00000613424.5:c.*79T>C	ENSP00000480887.1:n.*79T>C
ENST00000638452.2:c.-169+34382A>G	ENSP00000492349.2:n.-169+34382A>G
ENST00000638504.1:n.206+64131A>G
ENST00000638568.2:c.-311+34382A>G	ENSP00000491158.2:n.-311+34382A>G
ENST00000639899.1:n.289+34382A>G
ENST00000640655.2:c.-637-2121A>G	ENSP00000491596.2:n.-637-2121A>G
ENST00000679743.1:c.479T>C	ENSP00000505257.1:n.479T>C
ENST00000679786.1:n.130+2486T>C
ENST00000679860.1:c.146T>C
ENST00000679921.1:c.292+2486T>C	ENSP00000505766.1:n.292+2486T>C
ENST00000679945.1:n.130+2486T>C
ENST00000679964.1:n.50+1596T>C
ENST00000680139.1:c.672T>C	ENSP00000506148.1:p.Asp224=
ENST00000680380.1:n.136+291T>C
ENST00000680562.1:c.306T>C	ENSP00000505853.1:p.Asp102=
ENST00000680594.1:n.136+291T>C
ENST00000680903.1:c.735T>C	ENSP00000505720.1:p.Asp245=
ENST00000681049.1:n.50+1596T>C
ENST00000681240.1:c.108T>C	ENSP00000506034.1:p.Asp36=
ENST00000681336.1:c.137-32T>C	ENSP00000505242.1:n.137-32T>C
ENST00000681462.1:c.695T>C
ENST00000681595.1:c.419T>C	ENSP00000506023.1:n.419T>C
ENST00000681634.1:n.136+291T>C
ENST00000681694.1:c.170T>C	ENSP00000506552.1:p.Ile57Thr
ENST00000681715.1:c.356T>C	ENSP00000506545.1:n.356T>C
ENST00000245414.8:c.858T>C	ENSP00000245414.4:p.Asp286=
ENST00000405885.6:c.858T>C	ENSP00000384406.1:p.Asp286=
ENST00000472045.1:n.4167T>C
ENST00000613424.4:c.*79T>C	ENSP00000480887.1:n.*79T>C
NM_002198.2:c.858T>C	NP_002189.1:p.Asp286=
XM_011543378.1:c.735T>C	XP_011541680.1:p.Asp245=
XM_011543379.1:c.606T>C	XP_011541681.1:p.Asp202=
XR_427711.2:n.919T>C
NM_001354924.1:c.735T>C	NP_001341853.1:p.Asp245=
NM_001354925.1:c.672T>C	NP_001341854.1:p.Asp224=
NR_149068.1:n.919T>C
XM_011543379.2:c.606T>C	XP_011541681.1:p.Asp202=
NM_002198.3:c.858T>C MANE Select	NP_002189.1:p.Asp286=