Canonical Allele Identifier: CA360813815
Gene: IRF1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132483967A>C , CM000667.2:g.132483967A>C GRCh38
NC_000005.9:g.131819659A>C , CM000667.1:g.131819659A>C GRCh37
NC_000005.8:g.131847558A>C NCBI36
NG_011450.1:g.11807T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000245414.9:c.962T>G MANE Select ENSP00000245414.4:p.Ile321Ser
ENST00000638452.2:c.-169+34278A>C ENSP00000492349.2:n.-169+34278A>C
ENST00000638504.1:n.206+64027A>C
ENST00000638568.2:c.-311+34278A>C ENSP00000491158.2:n.-311+34278A>C
ENST00000639899.1:n.289+34278A>C
ENST00000640655.2:c.-637-2225A>C ENSP00000491596.2:n.-637-2225A>C
ENST00000679743.1:c.583T>G ENSP00000505257.1:n.583T>G
ENST00000679786.1:n.130+2590T>G
ENST00000679921.1:c.292+2590T>G ENSP00000505766.1:n.292+2590T>G
ENST00000679945.1:n.130+2590T>G
ENST00000679964.1:n.50+1700T>G
ENST00000680139.1:c.776T>G ENSP00000506148.1:p.Ile259Ser
ENST00000680380.1:n.136+395T>G
ENST00000680562.1:c.410T>G ENSP00000505853.1:p.Ile137Ser
ENST00000680594.1:n.136+395T>G
ENST00000680903.1:c.839T>G ENSP00000505720.1:p.Ile280Ser
ENST00000681049.1:n.50+1700T>G
ENST00000681240.1:c.212T>G ENSP00000506034.1:p.Ile71Ser
ENST00000681336.1:c.209T>G ENSP00000505242.1:p.Ile70Ser
ENST00000681595.1:c.523T>G ENSP00000506023.1:n.523T>G
ENST00000681634.1:n.136+395T>G
ENST00000681694.1:c.274T>G ENSP00000506552.1:n.274T>G
ENST00000681715.1:c.460T>G ENSP00000506545.1:n.460T>G
ENST00000245414.8:c.962T>G ENSP00000245414.4:p.Ile321Ser
ENST00000405885.6:c.962T>G ENSP00000384406.1:p.Ile321Ser
ENST00000472045.1:n.4271T>G
NM_002198.2:c.962T>G NP_002189.1:p.Ile321Ser
XM_011543378.1:c.839T>G XP_011541680.1:p.Ile280Ser
XM_011543379.1:c.710T>G XP_011541681.1:p.Ile237Ser
XR_427711.2:n.1023T>G
NM_001354924.1:c.839T>G NP_001341853.1:p.Ile280Ser
NM_001354925.1:c.776T>G NP_001341854.1:p.Ile259Ser
NR_149068.1:n.1023T>G
XM_011543379.2:c.710T>G XP_011541681.1:p.Ile237Ser
NM_002198.3:c.962T>G MANE Select NP_002189.1:p.Ile321Ser