Canonical Allele Identifier: CA127609

Gene: IFNGR1

Linked Data

• ClinVar Variation Id: 17950
• ClinVar RCV Id: RCV000019546
• dbSNP Id: rs121912715
• MyVariant Identifiers: chr6:g.137528118A>T (hg19) ; chr6:g.137206981A>T (hg38)
• PubMed: PMID:10811850

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.137206981A>T , CM000668.2:g.137206981A>T	GRCh38
NC_000006.11:g.137528118A>T , CM000668.1:g.137528118A>T	GRCh37
NC_000006.10:g.137569811A>T	NCBI36
NG_007394.1:g.17450T>A , LRG_66:g.17450T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000414770.6:c.152T>A	ENSP00000394230.2:p.Val51Glu
ENST00000458076.6:c.182T>A	ENSP00000389249.2:p.Val61Glu
ENST00000696693.1:c.59T>A	ENSP00000512814.1:p.Val20Glu
ENST00000696694.1:c.182T>A	ENSP00000512815.1:p.Val61Glu
ENST00000696695.1:c.182T>A	ENSP00000512816.1:p.Val61Glu
ENST00000696696.1:c.*81T>A	ENSP00000512817.1:n.*81T>A
ENST00000696697.1:c.128T>A	ENSP00000512818.1:p.Val43Glu
ENST00000696698.1:c.182T>A	ENSP00000512819.1:p.Val61Glu
ENST00000696699.1:c.98T>A	ENSP00000512820.1:p.Val33Glu
ENST00000367739.9:c.182T>A MANE Select	ENSP00000356713.5:p.Val61Glu
ENST00000642390.1:c.125T>A	ENSP00000496468.1:p.Val42Glu
ENST00000643119.1:c.302T>A	ENSP00000495934.1:n.302T>A
ENST00000644894.1:c.59T>A	ENSP00000495272.1:p.Val20Glu
ENST00000645045.1:c.291T>A
ENST00000645753.1:c.59T>A	ENSP00000495103.1:p.Val20Glu
ENST00000646036.1:c.152T>A	ENSP00000496387.1:p.Val51Glu
ENST00000646898.1:c.152T>A	ENSP00000494069.1:p.Val51Glu
ENST00000647124.1:c.59T>A	ENSP00000496549.1:p.Val20Glu
ENST00000367739.8:c.182T>A	ENSP00000356713.4:p.Val61Glu
ENST00000414770.5:c.152T>A	ENSP00000394230.1:p.Val51Glu
ENST00000458076.5:c.182T>A	ENSP00000389249.1:p.Val61Glu
ENST00000478333.1:n.304T>A
ENST00000543628.5:c.182T>A	ENSP00000443282.2:p.Val61Glu
NM_000416.2:c.182T>A , LRG_66t1:c.182T>A	NP_000407.1:p.Val61Glu
XM_006715470.2:c.152T>A	XP_006715533.1:p.Val51Glu
XM_006715471.2:c.59T>A	XP_006715534.1:p.Val20Glu
XM_011535793.1:c.152T>A	XP_011534095.1:p.Val51Glu
XM_011535794.1:c.152T>A	XP_011534096.1:p.Val51Glu
NM_001363526.1:c.152T>A	NP_001350455.1:p.Val51Glu
NM_001363527.1:c.59T>A	NP_001350456.1:p.Val20Glu
XM_006715470.3:c.152T>A	XP_006715533.1:p.Val51Glu
XM_011535793.2:c.152T>A	XP_011534095.1:p.Val51Glu
NM_000416.3:c.182T>A MANE Select	NP_000407.1:p.Val61Glu