Canonical Allele Identifier: CA144516

Gene: IRF8

Linked Data

• ClinVar Variation Id: 56843
• ClinVar RCV Id: RCV000050230
• dbSNP Id: rs397514711
• COSMIC: COSM3728115
• MyVariant Identifiers: chr16:g.85942659A>G (hg19) ; chr16:g.85909053A>G (hg38)
• PubMed: PMID:21524210

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.85909053A>G , CM000678.2:g.85909053A>G	GRCh38
NC_000016.9:g.85942659A>G , CM000678.1:g.85942659A>G	GRCh37
NC_000016.8:g.84500160A>G	NCBI36
NG_029333.1:g.14886A>G , LRG_294:g.14886A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000564803.6:c.238A>G	ENSP00000456992.2:p.Thr80Ala
ENST00000566369.2:c.238A>G	ENSP00000455048.2:p.Thr80Ala
ENST00000696884.1:c.238A>G	ENSP00000512951.1:p.Thr80Ala
ENST00000696885.1:c.238A>G	ENSP00000512952.1:p.Thr80Ala
ENST00000696886.1:n.288A>G
ENST00000696887.1:c.238A>G	ENSP00000512953.1:p.Thr80Ala
ENST00000696888.1:n.287A>G
ENST00000696889.1:n.231A>G
ENST00000696890.1:n.185A>G
ENST00000268638.10:c.238A>G MANE Select	ENSP00000268638.4:p.Thr80Ala
ENST00000268638.9:c.238A>G	ENSP00000268638.4:p.Thr80Ala
ENST00000563180.1:c.238A>G	ENSP00000458047.1:p.Thr80Ala
ENST00000564056.1:n.123A>G
ENST00000564617.5:c.238A>G	ENSP00000455784.1:p.Thr80Ala
ENST00000564803.5:c.238A>G	ENSP00000456992.1:p.Thr80Ala
ENST00000566369.1:c.66A>G
NM_002163.2:c.238A>G , LRG_294t1:c.238A>G	NP_002154.1:p.Thr80Ala
NM_001363907.1:c.268A>G	NP_001350836.1:p.Thr90Ala
NM_001363908.1:c.-269A>G	NP_001350837.1:n.-269A>G
NM_002163.3:c.238A>G	NP_002154.1:p.Thr80Ala
NM_002163.4:c.238A>G MANE Select	NP_002154.1:p.Thr80Ala