Canonical Allele Identifier: CA365776036
Gene: IFNGR1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.137206988A>T , CM000668.2:g.137206988A>T GRCh38
NC_000006.11:g.137528125A>T , CM000668.1:g.137528125A>T GRCh37
NC_000006.10:g.137569818A>T NCBI36
NG_007394.1:g.17443T>A , LRG_66:g.17443T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000414770.6:c.145T>A ENSP00000394230.2:p.Phe49Ile
ENST00000458076.6:c.175T>A ENSP00000389249.2:p.Phe59Ile
ENST00000696693.1:c.52T>A ENSP00000512814.1:p.Phe18Ile
ENST00000696694.1:c.175T>A ENSP00000512815.1:p.Phe59Ile
ENST00000696695.1:c.175T>A ENSP00000512816.1:p.Phe59Ile
ENST00000696696.1:c.*74T>A ENSP00000512817.1:n.*74T>A
ENST00000696697.1:c.121T>A ENSP00000512818.1:p.Phe41Ile
ENST00000696698.1:c.175T>A ENSP00000512819.1:p.Phe59Ile
ENST00000696699.1:c.91T>A ENSP00000512820.1:p.Phe31Ile
ENST00000367739.9:c.175T>A MANE Select ENSP00000356713.5:p.Phe59Ile
ENST00000642390.1:c.118T>A ENSP00000496468.1:p.Phe40Ile
ENST00000643119.1:c.295T>A ENSP00000495934.1:n.295T>A
ENST00000644894.1:c.52T>A ENSP00000495272.1:p.Phe18Ile
ENST00000645045.1:c.284T>A
ENST00000645753.1:c.52T>A ENSP00000495103.1:p.Phe18Ile
ENST00000646036.1:c.145T>A ENSP00000496387.1:p.Phe49Ile
ENST00000646898.1:c.145T>A ENSP00000494069.1:p.Phe49Ile
ENST00000647124.1:c.52T>A ENSP00000496549.1:p.Phe18Ile
ENST00000367739.8:c.175T>A ENSP00000356713.4:p.Phe59Ile
ENST00000414770.5:c.145T>A ENSP00000394230.1:p.Phe49Ile
ENST00000458076.5:c.175T>A ENSP00000389249.1:p.Phe59Ile
ENST00000478333.1:n.297T>A
ENST00000543628.5:c.175T>A ENSP00000443282.2:p.Phe59Ile
NM_000416.2:c.175T>A , LRG_66t1:c.175T>A NP_000407.1:p.Phe59Ile
XM_006715470.2:c.145T>A XP_006715533.1:p.Phe49Ile
XM_006715471.2:c.52T>A XP_006715534.1:p.Phe18Ile
XM_011535793.1:c.145T>A XP_011534095.1:p.Phe49Ile
XM_011535794.1:c.145T>A XP_011534096.1:p.Phe49Ile
NM_001363526.1:c.145T>A NP_001350455.1:p.Phe49Ile
NM_001363527.1:c.52T>A NP_001350456.1:p.Phe18Ile
XM_006715470.3:c.145T>A XP_006715533.1:p.Phe49Ile
XM_011535793.2:c.145T>A XP_011534095.1:p.Phe49Ile
NM_000416.3:c.175T>A MANE Select NP_000407.1:p.Phe59Ile