Canonical Allele Identifier: CA360813982
Gene: IRF1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132484044G>T , CM000667.2:g.132484044G>T GRCh38
NC_000005.9:g.131819736G>T , CM000667.1:g.131819736G>T GRCh37
NC_000005.8:g.131847635G>T NCBI36
NG_011450.1:g.11730C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000245414.9:c.885C>A MANE Select ENSP00000245414.4:p.Phe295Leu
ENST00000638452.2:c.-169+34355G>T ENSP00000492349.2:n.-169+34355G>T
ENST00000638504.1:n.206+64104G>T
ENST00000638568.2:c.-311+34355G>T ENSP00000491158.2:n.-311+34355G>T
ENST00000639899.1:n.289+34355G>T
ENST00000640655.2:c.-637-2148G>T ENSP00000491596.2:n.-637-2148G>T
ENST00000679743.1:c.506C>A ENSP00000505257.1:n.506C>A
ENST00000679786.1:n.130+2513C>A
ENST00000679860.1:c.173C>A
ENST00000679921.1:c.292+2513C>A ENSP00000505766.1:n.292+2513C>A
ENST00000679945.1:n.130+2513C>A
ENST00000679964.1:n.50+1623C>A
ENST00000680139.1:c.699C>A ENSP00000506148.1:p.Phe233Leu
ENST00000680380.1:n.136+318C>A
ENST00000680562.1:c.333C>A ENSP00000505853.1:p.Phe111Leu
ENST00000680594.1:n.136+318C>A
ENST00000680903.1:c.762C>A ENSP00000505720.1:p.Phe254Leu
ENST00000681049.1:n.50+1623C>A
ENST00000681240.1:c.135C>A ENSP00000506034.1:p.Phe45Leu
ENST00000681336.1:c.137-5C>A ENSP00000505242.1:n.137-5C>A
ENST00000681462.1:c.722C>A
ENST00000681595.1:c.446C>A ENSP00000506023.1:n.446C>A
ENST00000681634.1:n.136+318C>A
ENST00000681694.1:c.197C>A ENSP00000506552.1:n.197C>A
ENST00000681715.1:c.383C>A ENSP00000506545.1:n.383C>A
ENST00000245414.8:c.885C>A ENSP00000245414.4:p.Phe295Leu
ENST00000405885.6:c.885C>A ENSP00000384406.1:p.Phe295Leu
ENST00000472045.1:n.4194C>A
NM_002198.2:c.885C>A NP_002189.1:p.Phe295Leu
XM_011543378.1:c.762C>A XP_011541680.1:p.Phe254Leu
XM_011543379.1:c.633C>A XP_011541681.1:p.Phe211Leu
XR_427711.2:n.946C>A
NM_001354924.1:c.762C>A NP_001341853.1:p.Phe254Leu
NM_001354925.1:c.699C>A NP_001341854.1:p.Phe233Leu
NR_149068.1:n.946C>A
XM_011543379.2:c.633C>A XP_011541681.1:p.Phe211Leu
NM_002198.3:c.885C>A MANE Select NP_002189.1:p.Phe295Leu