Canonical Allele Identifier: CA2580575545
Community Standard Title: NM_002163.4(IRF8):c.448-720C>T
Gene: IRF8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.85912411C>T , CM000678.2:g.85912411C>T GRCh38
NC_000016.9:g.85946017C>T , CM000678.1:g.85946017C>T GRCh37
NC_000016.8:g.84503518C>T NCBI36
NG_029333.1:g.18244C>T , LRG_294:g.18244C>T

Transcript Alleles

HGVS Amino-acid Change
NM_002163.4:c.448-720C>T MANE Select NP_002154.1:n.448-720C>T
ENST00000268638.10:c.448-720C>T MANE Select ENSP00000268638.4:n.448-720C>T
NM_001363907.1:c.478-720C>T NP_001350836.1:n.478-720C>T
NM_001363908.1:c.-60+753C>T NP_001350837.1:n.-60+753C>T
NM_002163.2:c.448-720C>T , LRG_294t1:c.448-720C>T NP_002154.1:n.448-720C>T
NM_002163.3:c.448-720C>T NP_002154.1:n.448-720C>T
ENST00000268638.9:c.448-720C>T ENSP00000268638.4:n.448-720C>T
ENST00000564056.1:n.333-720C>T
ENST00000564617.5:c.448-720C>T ENSP00000455784.1:n.448-720C>T
ENST00000564803.5:c.448-720C>T ENSP00000456992.1:n.448-720C>T
ENST00000564803.6:c.448-720C>T ENSP00000456992.2:n.448-720C>T
ENST00000566369.1:c.275+753C>T
ENST00000566369.2:c.447+753C>T ENSP00000455048.2:n.447+753C>T
ENST00000696884.1:c.447+753C>T ENSP00000512951.1:n.447+753C>T
ENST00000696885.1:c.*926-720C>T ENSP00000512952.1:n.*926-720C>T
ENST00000696886.1:n.2581-720C>T
ENST00000696887.1:c.448-720C>T ENSP00000512953.1:n.448-720C>T
ENST00000696888.1:n.497-90C>T
ENST00000696890.1:n.395-720C>T
XM_011523064.1:c.-60+753C>T XP_011521366.1:n.-60+753C>T