Canonical Allele Identifier: CA446358280
Gene: IRF1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.131819664C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132483972C>T , CM000667.2:g.132483972C>T GRCh38
NC_000005.9:g.131819664C>T , CM000667.1:g.131819664C>T GRCh37
NC_000005.8:g.131847563C>T NCBI36
NG_011450.1:g.11802G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000245414.9:c.957G>A MANE Select ENSP00000245414.4:p.Gln319=
ENST00000638452.2:c.-169+34283C>T ENSP00000492349.2:n.-169+34283C>T
ENST00000638504.1:n.206+64032C>T
ENST00000638568.2:c.-311+34283C>T ENSP00000491158.2:n.-311+34283C>T
ENST00000639899.1:n.289+34283C>T
ENST00000640655.2:c.-637-2220C>T ENSP00000491596.2:n.-637-2220C>T
ENST00000679743.1:c.578G>A ENSP00000505257.1:n.578G>A
ENST00000679786.1:n.130+2585G>A
ENST00000679921.1:c.292+2585G>A ENSP00000505766.1:n.292+2585G>A
ENST00000679945.1:n.130+2585G>A
ENST00000679964.1:n.50+1695G>A
ENST00000680139.1:c.771G>A ENSP00000506148.1:p.Gln257=
ENST00000680380.1:n.136+390G>A
ENST00000680562.1:c.405G>A ENSP00000505853.1:p.Gln135=
ENST00000680594.1:n.136+390G>A
ENST00000680903.1:c.834G>A ENSP00000505720.1:p.Gln278=
ENST00000681049.1:n.50+1695G>A
ENST00000681240.1:c.207G>A ENSP00000506034.1:p.Gln69=
ENST00000681336.1:c.204G>A ENSP00000505242.1:p.Gln68=
ENST00000681595.1:c.518G>A ENSP00000506023.1:n.518G>A
ENST00000681634.1:n.136+390G>A
ENST00000681694.1:c.269G>A ENSP00000506552.1:n.269G>A
ENST00000681715.1:c.455G>A ENSP00000506545.1:n.455G>A
ENST00000245414.8:c.957G>A ENSP00000245414.4:p.Gln319=
ENST00000405885.6:c.957G>A ENSP00000384406.1:p.Gln319=
ENST00000472045.1:n.4266G>A
NM_002198.2:c.957G>A NP_002189.1:p.Gln319=
XM_011543378.1:c.834G>A XP_011541680.1:p.Gln278=
XM_011543379.1:c.705G>A XP_011541681.1:p.Gln235=
XR_427711.2:n.1018G>A
NM_001354924.1:c.834G>A NP_001341853.1:p.Gln278=
NM_001354925.1:c.771G>A NP_001341854.1:p.Gln257=
NR_149068.1:n.1018G>A
XM_011543379.2:c.705G>A XP_011541681.1:p.Gln235=
NM_002198.3:c.957G>A MANE Select NP_002189.1:p.Gln319=