Canonical Allele Identifier: CA360813868
Gene: IRF1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132483992C>T , CM000667.2:g.132483992C>T GRCh38
NC_000005.9:g.131819684C>T , CM000667.1:g.131819684C>T GRCh37
NC_000005.8:g.131847583C>T NCBI36
NG_011450.1:g.11782G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000245414.9:c.937G>A MANE Select ENSP00000245414.4:p.Val313Ile
ENST00000638452.2:c.-169+34303C>T ENSP00000492349.2:n.-169+34303C>T
ENST00000638504.1:n.206+64052C>T
ENST00000638568.2:c.-311+34303C>T ENSP00000491158.2:n.-311+34303C>T
ENST00000639899.1:n.289+34303C>T
ENST00000640655.2:c.-637-2200C>T ENSP00000491596.2:n.-637-2200C>T
ENST00000679743.1:c.558G>A ENSP00000505257.1:n.558G>A
ENST00000679786.1:n.130+2565G>A
ENST00000679860.1:c.225G>A
ENST00000679921.1:c.292+2565G>A ENSP00000505766.1:n.292+2565G>A
ENST00000679945.1:n.130+2565G>A
ENST00000679964.1:n.50+1675G>A
ENST00000680139.1:c.751G>A ENSP00000506148.1:p.Val251Ile
ENST00000680380.1:n.136+370G>A
ENST00000680562.1:c.385G>A ENSP00000505853.1:p.Val129Ile
ENST00000680594.1:n.136+370G>A
ENST00000680903.1:c.814G>A ENSP00000505720.1:p.Val272Ile
ENST00000681049.1:n.50+1675G>A
ENST00000681240.1:c.187G>A ENSP00000506034.1:p.Val63Ile
ENST00000681336.1:c.184G>A ENSP00000505242.1:p.Val62Ile
ENST00000681462.1:c.774G>A
ENST00000681595.1:c.498G>A ENSP00000506023.1:n.498G>A
ENST00000681634.1:n.136+370G>A
ENST00000681694.1:c.249G>A ENSP00000506552.1:n.249G>A
ENST00000681715.1:c.435G>A ENSP00000506545.1:n.435G>A
ENST00000245414.8:c.937G>A ENSP00000245414.4:p.Val313Ile
ENST00000405885.6:c.937G>A ENSP00000384406.1:p.Val313Ile
ENST00000472045.1:n.4246G>A
NM_002198.2:c.937G>A NP_002189.1:p.Val313Ile
XM_011543378.1:c.814G>A XP_011541680.1:p.Val272Ile
XM_011543379.1:c.685G>A XP_011541681.1:p.Val229Ile
XR_427711.2:n.998G>A
NM_001354924.1:c.814G>A NP_001341853.1:p.Val272Ile
NM_001354925.1:c.751G>A NP_001341854.1:p.Val251Ile
NR_149068.1:n.998G>A
XM_011543379.2:c.685G>A XP_011541681.1:p.Val229Ile
NM_002198.3:c.937G>A MANE Select NP_002189.1:p.Val313Ile