Canonical Allele Identifier: CA4019033

Gene: IFNGR1

Linked Data

• ClinVar Variation Id: 907722
• ClinVar RCV Id: RCV001157764
• dbSNP Id: rs760535699
• ExAC: 6:137528120 G / A
• gnomAD v2: 6-137528120-G-A
• gnomAD v3: 6-137206983-G-A
• gnomAD v4: 6-137206983-G-A
• COSMIC: COSM483459 ; COSM4857746
• MyVariant Identifiers: chr6:g.137528120G>A (hg19) ; chr6:g.137206983G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.137206983G>A , CM000668.2:g.137206983G>A	GRCh38
NC_000006.11:g.137528120G>A , CM000668.1:g.137528120G>A	GRCh37
NC_000006.10:g.137569813G>A	NCBI36
NG_007394.1:g.17448C>T , LRG_66:g.17448C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000414770.6:c.150C>T	ENSP00000394230.2:p.Thr50=
ENST00000458076.6:c.180C>T	ENSP00000389249.2:p.Thr60=
ENST00000696693.1:c.57C>T	ENSP00000512814.1:p.Thr19=
ENST00000696694.1:c.180C>T	ENSP00000512815.1:p.Thr60=
ENST00000696695.1:c.180C>T	ENSP00000512816.1:p.Thr60=
ENST00000696696.1:c.*79C>T	ENSP00000512817.1:n.*79C>T
ENST00000696697.1:c.126C>T	ENSP00000512818.1:p.Thr42=
ENST00000696698.1:c.180C>T	ENSP00000512819.1:p.Thr60=
ENST00000696699.1:c.96C>T	ENSP00000512820.1:p.Thr32=
ENST00000367739.9:c.180C>T MANE Select	ENSP00000356713.5:p.Thr60=
ENST00000642390.1:c.123C>T	ENSP00000496468.1:p.Thr41=
ENST00000643119.1:c.300C>T	ENSP00000495934.1:n.300C>T
ENST00000644894.1:c.57C>T	ENSP00000495272.1:p.Thr19=
ENST00000645045.1:c.289C>T
ENST00000645753.1:c.57C>T	ENSP00000495103.1:p.Thr19=
ENST00000646036.1:c.150C>T	ENSP00000496387.1:p.Thr50=
ENST00000646898.1:c.150C>T	ENSP00000494069.1:p.Thr50=
ENST00000647124.1:c.57C>T	ENSP00000496549.1:p.Thr19=
ENST00000367739.8:c.180C>T	ENSP00000356713.4:p.Thr60=
ENST00000414770.5:c.150C>T	ENSP00000394230.1:p.Thr50=
ENST00000458076.5:c.180C>T	ENSP00000389249.1:p.Thr60=
ENST00000478333.1:n.302C>T
ENST00000543628.5:c.180C>T	ENSP00000443282.2:p.Thr60=
NM_000416.2:c.180C>T , LRG_66t1:c.180C>T	NP_000407.1:p.Thr60=
XM_006715470.2:c.150C>T	XP_006715533.1:p.Thr50=
XM_006715471.2:c.57C>T	XP_006715534.1:p.Thr19=
XM_011535793.1:c.150C>T	XP_011534095.1:p.Thr50=
XM_011535794.1:c.150C>T	XP_011534096.1:p.Thr50=
NM_001363526.1:c.150C>T	NP_001350455.1:p.Thr50=
NM_001363527.1:c.57C>T	NP_001350456.1:p.Thr19=
XM_006715470.3:c.150C>T	XP_006715533.1:p.Thr50=
XM_011535793.2:c.150C>T	XP_011534095.1:p.Thr50=
NM_000416.3:c.180C>T MANE Select	NP_000407.1:p.Thr60=