Canonical Allele Identifier: CA360813920
Gene: IRF1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132484018G>C , CM000667.2:g.132484018G>C GRCh38
NC_000005.9:g.131819710G>C , CM000667.1:g.131819710G>C GRCh37
NC_000005.8:g.131847609G>C NCBI36
NG_011450.1:g.11756C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000245414.9:c.911C>G MANE Select ENSP00000245414.4:p.Thr304Ser
ENST00000638452.2:c.-169+34329G>C ENSP00000492349.2:n.-169+34329G>C
ENST00000638504.1:n.206+64078G>C
ENST00000638568.2:c.-311+34329G>C ENSP00000491158.2:n.-311+34329G>C
ENST00000639899.1:n.289+34329G>C
ENST00000640655.2:c.-637-2174G>C ENSP00000491596.2:n.-637-2174G>C
ENST00000679743.1:c.532C>G ENSP00000505257.1:n.532C>G
ENST00000679786.1:n.130+2539C>G
ENST00000679860.1:c.199C>G
ENST00000679921.1:c.292+2539C>G ENSP00000505766.1:n.292+2539C>G
ENST00000679945.1:n.130+2539C>G
ENST00000679964.1:n.50+1649C>G
ENST00000680139.1:c.725C>G ENSP00000506148.1:p.Thr242Ser
ENST00000680380.1:n.136+344C>G
ENST00000680562.1:c.359C>G ENSP00000505853.1:p.Thr120Ser
ENST00000680594.1:n.136+344C>G
ENST00000680903.1:c.788C>G ENSP00000505720.1:p.Thr263Ser
ENST00000681049.1:n.50+1649C>G
ENST00000681240.1:c.161C>G ENSP00000506034.1:p.Thr54Ser
ENST00000681336.1:c.158C>G ENSP00000505242.1:p.Thr53Ser
ENST00000681462.1:c.748C>G
ENST00000681595.1:c.472C>G ENSP00000506023.1:n.472C>G
ENST00000681634.1:n.136+344C>G
ENST00000681694.1:c.223C>G ENSP00000506552.1:n.223C>G
ENST00000681715.1:c.409C>G ENSP00000506545.1:n.409C>G
ENST00000245414.8:c.911C>G ENSP00000245414.4:p.Thr304Ser
ENST00000405885.6:c.911C>G ENSP00000384406.1:p.Thr304Ser
ENST00000472045.1:n.4220C>G
NM_002198.2:c.911C>G NP_002189.1:p.Thr304Ser
XM_011543378.1:c.788C>G XP_011541680.1:p.Thr263Ser
XM_011543379.1:c.659C>G XP_011541681.1:p.Thr220Ser
XR_427711.2:n.972C>G
NM_001354924.1:c.788C>G NP_001341853.1:p.Thr263Ser
NM_001354925.1:c.725C>G NP_001341854.1:p.Thr242Ser
NR_149068.1:n.972C>G
XM_011543379.2:c.659C>G XP_011541681.1:p.Thr220Ser
NM_002198.3:c.911C>G MANE Select NP_002189.1:p.Thr304Ser