Canonical Allele Identifier: CA360813956
Gene: IRF1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132484032C>G , CM000667.2:g.132484032C>G GRCh38
NC_000005.9:g.131819724C>G , CM000667.1:g.131819724C>G GRCh37
NC_000005.8:g.131847623C>G NCBI36
NG_011450.1:g.11742G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000245414.9:c.897G>C MANE Select ENSP00000245414.4:p.Lys299Asn
ENST00000638452.2:c.-169+34343C>G ENSP00000492349.2:n.-169+34343C>G
ENST00000638504.1:n.206+64092C>G
ENST00000638568.2:c.-311+34343C>G ENSP00000491158.2:n.-311+34343C>G
ENST00000639899.1:n.289+34343C>G
ENST00000640655.2:c.-637-2160C>G ENSP00000491596.2:n.-637-2160C>G
ENST00000679743.1:c.518G>C ENSP00000505257.1:n.518G>C
ENST00000679786.1:n.130+2525G>C
ENST00000679860.1:c.185G>C
ENST00000679921.1:c.292+2525G>C ENSP00000505766.1:n.292+2525G>C
ENST00000679945.1:n.130+2525G>C
ENST00000679964.1:n.50+1635G>C
ENST00000680139.1:c.711G>C ENSP00000506148.1:p.Lys237Asn
ENST00000680380.1:n.136+330G>C
ENST00000680562.1:c.345G>C ENSP00000505853.1:p.Lys115Asn
ENST00000680594.1:n.136+330G>C
ENST00000680903.1:c.774G>C ENSP00000505720.1:p.Lys258Asn
ENST00000681049.1:n.50+1635G>C
ENST00000681240.1:c.147G>C ENSP00000506034.1:p.Lys49Asn
ENST00000681336.1:c.144G>C ENSP00000505242.1:p.Lys48Asn
ENST00000681462.1:c.734G>C
ENST00000681595.1:c.458G>C ENSP00000506023.1:n.458G>C
ENST00000681634.1:n.136+330G>C
ENST00000681694.1:c.209G>C ENSP00000506552.1:n.209G>C
ENST00000681715.1:c.395G>C ENSP00000506545.1:n.395G>C
ENST00000245414.8:c.897G>C ENSP00000245414.4:p.Lys299Asn
ENST00000405885.6:c.897G>C ENSP00000384406.1:p.Lys299Asn
ENST00000472045.1:n.4206G>C
NM_002198.2:c.897G>C NP_002189.1:p.Lys299Asn
XM_011543378.1:c.774G>C XP_011541680.1:p.Lys258Asn
XM_011543379.1:c.645G>C XP_011541681.1:p.Lys215Asn
XR_427711.2:n.958G>C
NM_001354924.1:c.774G>C NP_001341853.1:p.Lys258Asn
NM_001354925.1:c.711G>C NP_001341854.1:p.Lys237Asn
NR_149068.1:n.958G>C
XM_011543379.2:c.645G>C XP_011541681.1:p.Lys215Asn
NM_002198.3:c.897G>C MANE Select NP_002189.1:p.Lys299Asn