Canonical Allele Identifier: CA14322950

Gene: IRF8

Linked Data

• dbSNP Id: rs1044873
• gnomAD v2: 16-85955671-C-T
• gnomAD v3: 16-85922065-C-T
• gnomAD v4: 16-85922065-C-T
• MyVariant Identifiers: chr16:g.85955671C>T (hg19) ; chr16:g.85922065C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.85922065C>T , CM000678.2:g.85922065C>T	GRCh38
NC_000016.9:g.85955671C>T , CM000678.1:g.85955671C>T	GRCh37
NC_000016.8:g.84513172C>T	NCBI36
NG_029333.1:g.27898C>T , LRG_294:g.27898C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000564803.6:c.*783C>T	ENSP00000456992.2:n.*783C>T
ENST00000566369.2:c.*893C>T	ENSP00000455048.2:n.*893C>T
ENST00000569607.2:c.*783C>T	ENSP00000456395.2:n.*783C>T
ENST00000696884.1:c.*1496C>T	ENSP00000512951.1:n.*1496C>T
ENST00000696885.1:c.*2542C>T	ENSP00000512952.1:n.*2542C>T
ENST00000696886.1:n.4201C>T
ENST00000696887.1:c.*783C>T	ENSP00000512953.1:n.*783C>T
ENST00000696890.1:n.2011C>T
ENST00000268638.10:c.*783C>T MANE Select	ENSP00000268638.4:n.*783C>T
ENST00000268638.9:c.*783C>T	ENSP00000268638.4:n.*783C>T
ENST00000566369.1:c.1351C>T
NM_002163.2:c.*783C>T , LRG_294t1:c.*783C>T	NP_002154.1:n.*783C>T
XM_011523064.1:c.*783C>T	XP_011521366.1:n.*783C>T
NM_001363907.1:c.*783C>T	NP_001350836.1:n.*783C>T
NM_001363908.1:c.*783C>T	NP_001350837.1:n.*783C>T
NM_002163.3:c.*783C>T	NP_002154.1:n.*783C>T
NM_002163.4:c.*783C>T MANE Select	NP_002154.1:n.*783C>T