Canonical Allele Identifier: CA2239538962
Community Standard Title: NM_002163.4(IRF8):c.671C= (p.Pro224=)
Gene: IRF8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.85918486C= , CM000678.2:g.85918486C= GRCh38
NC_000016.9:g.85952092C= , CM000678.1:g.85952092C= GRCh37
NC_000016.8:g.84509593C= NCBI36
NG_029333.1:g.24319C= , LRG_294:g.24319C=

Transcript Alleles

HGVS Amino-acid Change
NM_002163.4:c.671C= MANE Select NP_002154.1:p.Pro224=
ENST00000268638.10:c.671C= MANE Select ENSP00000268638.4:p.Pro224=
NM_001363907.1:c.701C= NP_001350836.1:p.Pro234=
NM_001363908.1:c.59C= NP_001350837.1:p.Pro20=
NM_002163.2:c.671C= , LRG_294t1:c.671C= NP_002154.1:p.Pro224=
NM_002163.3:c.671C= NP_002154.1:p.Pro224=
ENST00000268638.9:c.671C= ENSP00000268638.4:p.Pro224=
ENST00000562492.5:c.59C= ENSP00000455452.1:p.Pro20=
ENST00000564803.5:c.671C= ENSP00000456992.1:p.Pro224=
ENST00000564803.6:c.671C= ENSP00000456992.2:p.Pro224=
ENST00000566369.1:c.276-1623C=
ENST00000566369.2:c.448-1623C= ENSP00000455048.2:n.448-1623C=
ENST00000569145.5:c.40C= ENSP00000455760.1:p.Pro14=
ENST00000569607.1:c.59C= ENSP00000456395.1:p.Pro20=
ENST00000569607.2:c.59C= ENSP00000456395.2:p.Pro20=
ENST00000696884.1:c.*103C= ENSP00000512951.1:n.*103C=
ENST00000696885.1:c.*1149C= ENSP00000512952.1:n.*1149C=
ENST00000696886.1:n.2804C=
ENST00000696887.1:c.671C= ENSP00000512953.1:p.Pro224=
ENST00000696890.1:n.618C=
XM_011523064.1:c.59C= XP_011521366.1:p.Pro20=