Canonical Allele Identifier: CA365776031
Gene: IFNGR1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.137206987A>C , CM000668.2:g.137206987A>C GRCh38
NC_000006.11:g.137528124A>C , CM000668.1:g.137528124A>C GRCh37
NC_000006.10:g.137569817A>C NCBI36
NG_007394.1:g.17444T>G , LRG_66:g.17444T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000414770.6:c.146T>G ENSP00000394230.2:p.Phe49Cys
ENST00000458076.6:c.176T>G ENSP00000389249.2:p.Phe59Cys
ENST00000696693.1:c.53T>G ENSP00000512814.1:p.Phe18Cys
ENST00000696694.1:c.176T>G ENSP00000512815.1:p.Phe59Cys
ENST00000696695.1:c.176T>G ENSP00000512816.1:p.Phe59Cys
ENST00000696696.1:c.*75T>G ENSP00000512817.1:n.*75T>G
ENST00000696697.1:c.122T>G ENSP00000512818.1:p.Phe41Cys
ENST00000696698.1:c.176T>G ENSP00000512819.1:p.Phe59Cys
ENST00000696699.1:c.92T>G ENSP00000512820.1:p.Phe31Cys
ENST00000367739.9:c.176T>G MANE Select ENSP00000356713.5:p.Phe59Cys
ENST00000642390.1:c.119T>G ENSP00000496468.1:p.Phe40Cys
ENST00000643119.1:c.296T>G ENSP00000495934.1:n.296T>G
ENST00000644894.1:c.53T>G ENSP00000495272.1:p.Phe18Cys
ENST00000645045.1:c.285T>G
ENST00000645753.1:c.53T>G ENSP00000495103.1:p.Phe18Cys
ENST00000646036.1:c.146T>G ENSP00000496387.1:p.Phe49Cys
ENST00000646898.1:c.146T>G ENSP00000494069.1:p.Phe49Cys
ENST00000647124.1:c.53T>G ENSP00000496549.1:p.Phe18Cys
ENST00000367739.8:c.176T>G ENSP00000356713.4:p.Phe59Cys
ENST00000414770.5:c.146T>G ENSP00000394230.1:p.Phe49Cys
ENST00000458076.5:c.176T>G ENSP00000389249.1:p.Phe59Cys
ENST00000478333.1:n.298T>G
ENST00000543628.5:c.176T>G ENSP00000443282.2:p.Phe59Cys
NM_000416.2:c.176T>G , LRG_66t1:c.176T>G NP_000407.1:p.Phe59Cys
XM_006715470.2:c.146T>G XP_006715533.1:p.Phe49Cys
XM_006715471.2:c.53T>G XP_006715534.1:p.Phe18Cys
XM_011535793.1:c.146T>G XP_011534095.1:p.Phe49Cys
XM_011535794.1:c.146T>G XP_011534096.1:p.Phe49Cys
NM_001363526.1:c.146T>G NP_001350455.1:p.Phe49Cys
NM_001363527.1:c.53T>G NP_001350456.1:p.Phe18Cys
XM_006715470.3:c.146T>G XP_006715533.1:p.Phe49Cys
XM_011535793.2:c.146T>G XP_011534095.1:p.Phe49Cys
NM_000416.3:c.176T>G MANE Select NP_000407.1:p.Phe59Cys