Canonical Allele Identifier: CA360813990
Gene: IRF1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132484048A>G , CM000667.2:g.132484048A>G GRCh38
NC_000005.9:g.131819740A>G , CM000667.1:g.131819740A>G GRCh37
NC_000005.8:g.131847639A>G NCBI36
NG_011450.1:g.11726T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000245414.9:c.881T>C MANE Select ENSP00000245414.4:p.Val294Ala
ENST00000638452.2:c.-169+34359A>G ENSP00000492349.2:n.-169+34359A>G
ENST00000638504.1:n.206+64108A>G
ENST00000638568.2:c.-311+34359A>G ENSP00000491158.2:n.-311+34359A>G
ENST00000639899.1:n.289+34359A>G
ENST00000640655.2:c.-637-2144A>G ENSP00000491596.2:n.-637-2144A>G
ENST00000679743.1:c.502T>C ENSP00000505257.1:n.502T>C
ENST00000679786.1:n.130+2509T>C
ENST00000679860.1:c.169T>C
ENST00000679921.1:c.292+2509T>C ENSP00000505766.1:n.292+2509T>C
ENST00000679945.1:n.130+2509T>C
ENST00000679964.1:n.50+1619T>C
ENST00000680139.1:c.695T>C ENSP00000506148.1:p.Val232Ala
ENST00000680380.1:n.136+314T>C
ENST00000680562.1:c.329T>C ENSP00000505853.1:p.Val110Ala
ENST00000680594.1:n.136+314T>C
ENST00000680903.1:c.758T>C ENSP00000505720.1:p.Val253Ala
ENST00000681049.1:n.50+1619T>C
ENST00000681240.1:c.131T>C ENSP00000506034.1:p.Val44Ala
ENST00000681336.1:c.137-9T>C ENSP00000505242.1:n.137-9T>C
ENST00000681462.1:c.718T>C
ENST00000681595.1:c.442T>C ENSP00000506023.1:n.442T>C
ENST00000681634.1:n.136+314T>C
ENST00000681694.1:c.193T>C ENSP00000506552.1:n.193T>C
ENST00000681715.1:c.379T>C ENSP00000506545.1:n.379T>C
ENST00000245414.8:c.881T>C ENSP00000245414.4:p.Val294Ala
ENST00000405885.6:c.881T>C ENSP00000384406.1:p.Val294Ala
ENST00000472045.1:n.4190T>C
NM_002198.2:c.881T>C NP_002189.1:p.Val294Ala
XM_011543378.1:c.758T>C XP_011541680.1:p.Val253Ala
XM_011543379.1:c.629T>C XP_011541681.1:p.Val210Ala
XR_427711.2:n.942T>C
NM_001354924.1:c.758T>C NP_001341853.1:p.Val253Ala
NM_001354925.1:c.695T>C NP_001341854.1:p.Val232Ala
NR_149068.1:n.942T>C
XM_011543379.2:c.629T>C XP_011541681.1:p.Val210Ala
NM_002198.3:c.881T>C MANE Select NP_002189.1:p.Val294Ala