Canonical Allele Identifier: CA365775633
Gene: IFNGR1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.137206159T>G , CM000668.2:g.137206159T>G GRCh38
NC_000006.11:g.137527296T>G , CM000668.1:g.137527296T>G GRCh37
NC_000006.10:g.137568989T>G NCBI36
NG_007394.1:g.18272A>C , LRG_66:g.18272A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000414770.6:c.320A>C ENSP00000394230.2:p.Glu107Ala
ENST00000458076.6:c.248A>C ENSP00000389249.2:p.Glu83Ala
ENST00000696693.1:c.227A>C ENSP00000512814.1:p.Glu76Ala
ENST00000696694.1:c.350A>C ENSP00000512815.1:p.Glu117Ala
ENST00000696695.1:c.350A>C ENSP00000512816.1:p.Glu117Ala
ENST00000696696.1:c.*249A>C ENSP00000512817.1:n.*249A>C
ENST00000696697.1:c.296A>C ENSP00000512818.1:p.Glu99Ala
ENST00000696698.1:c.350A>C ENSP00000512819.1:p.Glu117Ala
ENST00000696699.1:c.266A>C ENSP00000512820.1:p.Glu89Ala
ENST00000367739.9:c.350A>C MANE Select ENSP00000356713.5:p.Glu117Ala
ENST00000642390.1:c.293A>C ENSP00000496468.1:p.Glu98Ala
ENST00000643119.1:c.470A>C ENSP00000495934.1:n.470A>C
ENST00000644894.1:c.227A>C ENSP00000495272.1:p.Glu76Ala
ENST00000645045.1:c.459A>C
ENST00000645753.1:c.227A>C ENSP00000495103.1:p.Glu76Ala
ENST00000646036.1:c.320A>C ENSP00000496387.1:p.Glu107Ala
ENST00000646898.1:c.320A>C ENSP00000494069.1:p.Glu107Ala
ENST00000647124.1:c.227A>C ENSP00000496549.1:p.Glu76Ala
ENST00000367739.8:c.350A>C ENSP00000356713.4:p.Glu117Ala
ENST00000414770.5:c.320A>C ENSP00000394230.1:p.Glu107Ala
ENST00000458076.5:c.248A>C ENSP00000389249.1:p.Glu83Ala
ENST00000543628.5:c.350A>C ENSP00000443282.2:p.Glu117Ala
NM_000416.2:c.350A>C , LRG_66t1:c.350A>C NP_000407.1:p.Glu117Ala
XM_006715470.2:c.320A>C XP_006715533.1:p.Glu107Ala
XM_006715471.2:c.227A>C XP_006715534.1:p.Glu76Ala
XM_011535793.1:c.320A>C XP_011534095.1:p.Glu107Ala
XM_011535794.1:c.320A>C XP_011534096.1:p.Glu107Ala
NM_001363526.1:c.320A>C NP_001350455.1:p.Glu107Ala
NM_001363527.1:c.227A>C NP_001350456.1:p.Glu76Ala
XM_006715470.3:c.320A>C XP_006715533.1:p.Glu107Ala
XM_011535793.2:c.320A>C XP_011534095.1:p.Glu107Ala
NM_000416.3:c.350A>C MANE Select NP_000407.1:p.Glu117Ala