Canonical Allele Identifier: CA360814044

Gene: IRF1

Linked Data

• gnomAD v4: 5-132484075-C-A
• MyVariant Identifiers: chr5:g.131819767C>A (hg19) ; chr5:g.132484075C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132484075C>A , CM000667.2:g.132484075C>A	GRCh38
NC_000005.9:g.131819767C>A , CM000667.1:g.131819767C>A	GRCh37
NC_000005.8:g.131847666C>A	NCBI36
NG_011450.1:g.11699G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245414.9:c.854G>T MANE Select	ENSP00000245414.4:p.Gly285Val
ENST00000613424.5:c.*75G>T	ENSP00000480887.1:n.*75G>T
ENST00000638452.2:c.-169+34386C>A	ENSP00000492349.2:n.-169+34386C>A
ENST00000638504.1:n.206+64135C>A
ENST00000638568.2:c.-311+34386C>A	ENSP00000491158.2:n.-311+34386C>A
ENST00000639899.1:n.289+34386C>A
ENST00000640655.2:c.-637-2117C>A	ENSP00000491596.2:n.-637-2117C>A
ENST00000679743.1:c.475G>T	ENSP00000505257.1:n.475G>T
ENST00000679786.1:n.130+2482G>T
ENST00000679860.1:c.142G>T
ENST00000679921.1:c.292+2482G>T	ENSP00000505766.1:n.292+2482G>T
ENST00000679945.1:n.130+2482G>T
ENST00000679964.1:n.50+1592G>T
ENST00000680139.1:c.668G>T	ENSP00000506148.1:p.Gly223Val
ENST00000680380.1:n.136+287G>T
ENST00000680562.1:c.302G>T	ENSP00000505853.1:p.Gly101Val
ENST00000680594.1:n.136+287G>T
ENST00000680903.1:c.731G>T	ENSP00000505720.1:p.Gly244Val
ENST00000681049.1:n.50+1592G>T
ENST00000681240.1:c.104G>T	ENSP00000506034.1:p.Trp35Leu
ENST00000681336.1:c.137-36G>T	ENSP00000505242.1:n.137-36G>T
ENST00000681462.1:c.691G>T
ENST00000681595.1:c.415G>T	ENSP00000506023.1:n.415G>T
ENST00000681634.1:n.136+287G>T
ENST00000681694.1:c.166G>T	ENSP00000506552.1:p.Gly56Trp
ENST00000681715.1:c.352G>T	ENSP00000506545.1:n.352G>T
ENST00000245414.8:c.854G>T	ENSP00000245414.4:p.Gly285Val
ENST00000405885.6:c.854G>T	ENSP00000384406.1:p.Gly285Val
ENST00000472045.1:n.4163G>T
ENST00000613424.4:c.*75G>T	ENSP00000480887.1:n.*75G>T
NM_002198.2:c.854G>T	NP_002189.1:p.Gly285Val
XM_011543378.1:c.731G>T	XP_011541680.1:p.Gly244Val
XM_011543379.1:c.602G>T	XP_011541681.1:p.Gly201Val
XR_427711.2:n.915G>T
NM_001354924.1:c.731G>T	NP_001341853.1:p.Gly244Val
NM_001354925.1:c.668G>T	NP_001341854.1:p.Gly223Val
NR_149068.1:n.915G>T
XM_011543379.2:c.602G>T	XP_011541681.1:p.Gly201Val
NM_002198.3:c.854G>T MANE Select	NP_002189.1:p.Gly285Val