Canonical Allele Identifier: CA4018958

Gene: IFNGR1

Linked Data

• ClinVar Variation Id: 355559
• ClinVar RCV Id: RCV002229900
• dbSNP Id: rs557217199
• ExAC: 6:137525493 C / T
• gnomAD v2: 6-137525493-C-T
• gnomAD v3: 6-137204356-C-T
• gnomAD v4: 6-137204356-C-T
• MyVariant Identifiers: chr6:g.137525493C>T (hg19) ; chr6:g.137204356C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.137204356C>T , CM000668.2:g.137204356C>T	GRCh38
NC_000006.11:g.137525493C>T , CM000668.1:g.137525493C>T	GRCh37
NC_000006.10:g.137567186C>T	NCBI36
NG_007394.1:g.20075G>A , LRG_66:g.20075G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000414770.6:c.492G>A	ENSP00000394230.2:p.Val164=
ENST00000458076.6:c.420G>A	ENSP00000389249.2:p.Val140=
ENST00000696693.1:c.399G>A	ENSP00000512814.1:p.Val133=
ENST00000696694.1:c.522G>A	ENSP00000512815.1:p.Val174=
ENST00000696695.1:c.522G>A	ENSP00000512816.1:p.Val174=
ENST00000696696.1:c.*421G>A	ENSP00000512817.1:n.*421G>A
ENST00000696697.1:c.468G>A	ENSP00000512818.1:p.Val156=
ENST00000696698.1:c.522G>A	ENSP00000512819.1:p.Val174=
ENST00000696699.1:c.438G>A	ENSP00000512820.1:p.Val146=
ENST00000367739.9:c.522G>A MANE Select	ENSP00000356713.5:p.Val174=
ENST00000642390.1:c.465G>A	ENSP00000496468.1:p.Val155=
ENST00000643119.1:c.642G>A	ENSP00000495934.1:n.642G>A
ENST00000644894.1:c.399G>A	ENSP00000495272.1:p.Val133=
ENST00000645045.1:c.631G>A
ENST00000645753.1:c.399G>A	ENSP00000495103.1:p.Val133=
ENST00000646036.1:c.492G>A	ENSP00000496387.1:p.Val164=
ENST00000646898.1:c.492G>A	ENSP00000494069.1:p.Val164=
ENST00000647124.1:c.399G>A	ENSP00000496549.1:p.Val133=
ENST00000367739.8:c.522G>A	ENSP00000356713.4:p.Val174=
ENST00000458076.5:c.420G>A	ENSP00000389249.1:p.Val140=
ENST00000543628.5:c.522G>A	ENSP00000443282.2:p.Val174=
NM_000416.2:c.522G>A , LRG_66t1:c.522G>A	NP_000407.1:p.Val174=
XM_006715470.2:c.492G>A	XP_006715533.1:p.Val164=
XM_006715471.2:c.399G>A	XP_006715534.1:p.Val133=
XM_011535793.1:c.492G>A	XP_011534095.1:p.Val164=
XM_011535794.1:c.492G>A	XP_011534096.1:p.Val164=
NM_001363526.1:c.492G>A	NP_001350455.1:p.Val164=
NM_001363527.1:c.399G>A	NP_001350456.1:p.Val133=
XM_006715470.3:c.492G>A	XP_006715533.1:p.Val164=
XM_011535793.2:c.492G>A	XP_011534095.1:p.Val164=
NM_000416.3:c.522G>A MANE Select	NP_000407.1:p.Val174=