Canonical Allele Identifier: CA360813827

Gene: IRF1

Linked Data

• MyVariant Identifiers: chr5:g.131819664C>A (hg19) ; chr5:g.132483972C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132483972C>A , CM000667.2:g.132483972C>A	GRCh38
NC_000005.9:g.131819664C>A , CM000667.1:g.131819664C>A	GRCh37
NC_000005.8:g.131847563C>A	NCBI36
NG_011450.1:g.11802G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245414.9:c.957G>T MANE Select	ENSP00000245414.4:p.Gln319His
ENST00000638452.2:c.-169+34283C>A	ENSP00000492349.2:n.-169+34283C>A
ENST00000638504.1:n.206+64032C>A
ENST00000638568.2:c.-311+34283C>A	ENSP00000491158.2:n.-311+34283C>A
ENST00000639899.1:n.289+34283C>A
ENST00000640655.2:c.-637-2220C>A	ENSP00000491596.2:n.-637-2220C>A
ENST00000679743.1:c.578G>T	ENSP00000505257.1:n.578G>T
ENST00000679786.1:n.130+2585G>T
ENST00000679921.1:c.292+2585G>T	ENSP00000505766.1:n.292+2585G>T
ENST00000679945.1:n.130+2585G>T
ENST00000679964.1:n.50+1695G>T
ENST00000680139.1:c.771G>T	ENSP00000506148.1:p.Gln257His
ENST00000680380.1:n.136+390G>T
ENST00000680562.1:c.405G>T	ENSP00000505853.1:p.Gln135His
ENST00000680594.1:n.136+390G>T
ENST00000680903.1:c.834G>T	ENSP00000505720.1:p.Gln278His
ENST00000681049.1:n.50+1695G>T
ENST00000681240.1:c.207G>T	ENSP00000506034.1:p.Gln69His
ENST00000681336.1:c.204G>T	ENSP00000505242.1:p.Gln68His
ENST00000681595.1:c.518G>T	ENSP00000506023.1:n.518G>T
ENST00000681634.1:n.136+390G>T
ENST00000681694.1:c.269G>T	ENSP00000506552.1:n.269G>T
ENST00000681715.1:c.455G>T	ENSP00000506545.1:n.455G>T
ENST00000245414.8:c.957G>T	ENSP00000245414.4:p.Gln319His
ENST00000405885.6:c.957G>T	ENSP00000384406.1:p.Gln319His
ENST00000472045.1:n.4266G>T
NM_002198.2:c.957G>T	NP_002189.1:p.Gln319His
XM_011543378.1:c.834G>T	XP_011541680.1:p.Gln278His
XM_011543379.1:c.705G>T	XP_011541681.1:p.Gln235His
XR_427711.2:n.1018G>T
NM_001354924.1:c.834G>T	NP_001341853.1:p.Gln278His
NM_001354925.1:c.771G>T	NP_001341854.1:p.Gln257His
NR_149068.1:n.1018G>T
XM_011543379.2:c.705G>T	XP_011541681.1:p.Gln235His
NM_002198.3:c.957G>T MANE Select	NP_002189.1:p.Gln319His