Canonical Allele Identifier: CA365775812
Gene: IFNGR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1350998
ClinVar RCV Id: RCV002042288
dbSNP Id: rs2114487139

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.137206240T>A , CM000668.2:g.137206240T>A GRCh38
NC_000006.11:g.137527377T>A , CM000668.1:g.137527377T>A GRCh37
NC_000006.10:g.137569070T>A NCBI36
NG_007394.1:g.18191A>T , LRG_66:g.18191A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000414770.6:c.239A>T ENSP00000394230.2:p.His80Leu
ENST00000458076.6:c.201-34A>T ENSP00000389249.2:n.201-34A>T
ENST00000696693.1:c.146A>T ENSP00000512814.1:p.His49Leu
ENST00000696694.1:c.269A>T ENSP00000512815.1:p.His90Leu
ENST00000696695.1:c.269A>T ENSP00000512816.1:p.His90Leu
ENST00000696696.1:c.*168A>T ENSP00000512817.1:n.*168A>T
ENST00000696697.1:c.215A>T ENSP00000512818.1:p.His72Leu
ENST00000696698.1:c.269A>T ENSP00000512819.1:p.His90Leu
ENST00000696699.1:c.185A>T ENSP00000512820.1:p.His62Leu
ENST00000367739.9:c.269A>T MANE Select ENSP00000356713.5:p.His90Leu
ENST00000642390.1:c.212A>T ENSP00000496468.1:p.His71Leu
ENST00000643119.1:c.389A>T ENSP00000495934.1:n.389A>T
ENST00000644894.1:c.146A>T ENSP00000495272.1:p.His49Leu
ENST00000645045.1:c.378A>T
ENST00000645753.1:c.146A>T ENSP00000495103.1:p.His49Leu
ENST00000646036.1:c.239A>T ENSP00000496387.1:p.His80Leu
ENST00000646898.1:c.239A>T ENSP00000494069.1:p.His80Leu
ENST00000647124.1:c.146A>T ENSP00000496549.1:p.His49Leu
ENST00000367739.8:c.269A>T ENSP00000356713.4:p.His90Leu
ENST00000414770.5:c.239A>T ENSP00000394230.1:p.His80Leu
ENST00000458076.5:c.201-34A>T ENSP00000389249.1:n.201-34A>T
ENST00000543628.5:c.269A>T ENSP00000443282.2:p.His90Leu
NM_000416.2:c.269A>T , LRG_66t1:c.269A>T NP_000407.1:p.His90Leu
XM_006715470.2:c.239A>T XP_006715533.1:p.His80Leu
XM_006715471.2:c.146A>T XP_006715534.1:p.His49Leu
XM_011535793.1:c.239A>T XP_011534095.1:p.His80Leu
XM_011535794.1:c.239A>T XP_011534096.1:p.His80Leu
NM_001363526.1:c.239A>T NP_001350455.1:p.His80Leu
NM_001363527.1:c.146A>T NP_001350456.1:p.His49Leu
XM_006715470.3:c.239A>T XP_006715533.1:p.His80Leu
XM_011535793.2:c.239A>T XP_011534095.1:p.His80Leu
NM_000416.3:c.269A>T MANE Select NP_000407.1:p.His90Leu