Canonical Allele Identifier: CA360813960

Gene: IRF1

Linked Data

• MyVariant Identifiers: chr5:g.131819726T>G (hg19) ; chr5:g.132484034T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132484034T>G , CM000667.2:g.132484034T>G	GRCh38
NC_000005.9:g.131819726T>G , CM000667.1:g.131819726T>G	GRCh37
NC_000005.8:g.131847625T>G	NCBI36
NG_011450.1:g.11740A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245414.9:c.895A>C MANE Select	ENSP00000245414.4:p.Lys299Gln
ENST00000638452.2:c.-169+34345T>G	ENSP00000492349.2:n.-169+34345T>G
ENST00000638504.1:n.206+64094T>G
ENST00000638568.2:c.-311+34345T>G	ENSP00000491158.2:n.-311+34345T>G
ENST00000639899.1:n.289+34345T>G
ENST00000640655.2:c.-637-2158T>G	ENSP00000491596.2:n.-637-2158T>G
ENST00000679743.1:c.516A>C	ENSP00000505257.1:n.516A>C
ENST00000679786.1:n.130+2523A>C
ENST00000679860.1:c.183A>C
ENST00000679921.1:c.292+2523A>C	ENSP00000505766.1:n.292+2523A>C
ENST00000679945.1:n.130+2523A>C
ENST00000679964.1:n.50+1633A>C
ENST00000680139.1:c.709A>C	ENSP00000506148.1:p.Lys237Gln
ENST00000680380.1:n.136+328A>C
ENST00000680562.1:c.343A>C	ENSP00000505853.1:p.Lys115Gln
ENST00000680594.1:n.136+328A>C
ENST00000680903.1:c.772A>C	ENSP00000505720.1:p.Lys258Gln
ENST00000681049.1:n.50+1633A>C
ENST00000681240.1:c.145A>C	ENSP00000506034.1:p.Lys49Gln
ENST00000681336.1:c.142A>C	ENSP00000505242.1:p.Lys48Gln
ENST00000681462.1:c.732A>C
ENST00000681595.1:c.456A>C	ENSP00000506023.1:n.456A>C
ENST00000681634.1:n.136+328A>C
ENST00000681694.1:c.207A>C	ENSP00000506552.1:n.207A>C
ENST00000681715.1:c.393A>C	ENSP00000506545.1:n.393A>C
ENST00000245414.8:c.895A>C	ENSP00000245414.4:p.Lys299Gln
ENST00000405885.6:c.895A>C	ENSP00000384406.1:p.Lys299Gln
ENST00000472045.1:n.4204A>C
NM_002198.2:c.895A>C	NP_002189.1:p.Lys299Gln
XM_011543378.1:c.772A>C	XP_011541680.1:p.Lys258Gln
XM_011543379.1:c.643A>C	XP_011541681.1:p.Lys215Gln
XR_427711.2:n.956A>C
NM_001354924.1:c.772A>C	NP_001341853.1:p.Lys258Gln
NM_001354925.1:c.709A>C	NP_001341854.1:p.Lys237Gln
NR_149068.1:n.956A>C
XM_011543379.2:c.643A>C	XP_011541681.1:p.Lys215Gln
NM_002198.3:c.895A>C MANE Select	NP_002189.1:p.Lys299Gln