Canonical Allele Identifier: CA365775886
Gene: IFNGR1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.137206271T>G , CM000668.2:g.137206271T>G GRCh38
NC_000006.11:g.137527408T>G , CM000668.1:g.137527408T>G GRCh37
NC_000006.10:g.137569101T>G NCBI36
NG_007394.1:g.18160A>C , LRG_66:g.18160A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000414770.6:c.208A>C ENSP00000394230.2:p.Ile70Leu
ENST00000458076.6:c.201-65A>C ENSP00000389249.2:n.201-65A>C
ENST00000696693.1:c.115A>C ENSP00000512814.1:p.Ile39Leu
ENST00000696694.1:c.238A>C ENSP00000512815.1:p.Ile80Leu
ENST00000696695.1:c.238A>C ENSP00000512816.1:p.Ile80Leu
ENST00000696696.1:c.*137A>C ENSP00000512817.1:n.*137A>C
ENST00000696697.1:c.184A>C ENSP00000512818.1:p.Ile62Leu
ENST00000696698.1:c.238A>C ENSP00000512819.1:p.Ile80Leu
ENST00000696699.1:c.154A>C ENSP00000512820.1:p.Ile52Leu
ENST00000367739.9:c.238A>C MANE Select ENSP00000356713.5:p.Ile80Leu
ENST00000642390.1:c.181A>C ENSP00000496468.1:p.Ile61Leu
ENST00000643119.1:c.358A>C ENSP00000495934.1:n.358A>C
ENST00000644894.1:c.115A>C ENSP00000495272.1:p.Ile39Leu
ENST00000645045.1:c.347A>C
ENST00000645753.1:c.115A>C ENSP00000495103.1:p.Ile39Leu
ENST00000646036.1:c.208A>C ENSP00000496387.1:p.Ile70Leu
ENST00000646898.1:c.208A>C ENSP00000494069.1:p.Ile70Leu
ENST00000647124.1:c.115A>C ENSP00000496549.1:p.Ile39Leu
ENST00000367739.8:c.238A>C ENSP00000356713.4:p.Ile80Leu
ENST00000414770.5:c.208A>C ENSP00000394230.1:p.Ile70Leu
ENST00000458076.5:c.201-65A>C ENSP00000389249.1:n.201-65A>C
ENST00000543628.5:c.238A>C ENSP00000443282.2:p.Ile80Leu
NM_000416.2:c.238A>C , LRG_66t1:c.238A>C NP_000407.1:p.Ile80Leu
XM_006715470.2:c.208A>C XP_006715533.1:p.Ile70Leu
XM_006715471.2:c.115A>C XP_006715534.1:p.Ile39Leu
XM_011535793.1:c.208A>C XP_011534095.1:p.Ile70Leu
XM_011535794.1:c.208A>C XP_011534096.1:p.Ile70Leu
NM_001363526.1:c.208A>C NP_001350455.1:p.Ile70Leu
NM_001363527.1:c.115A>C NP_001350456.1:p.Ile39Leu
XM_006715470.3:c.208A>C XP_006715533.1:p.Ile70Leu
XM_011535793.2:c.208A>C XP_011534095.1:p.Ile70Leu
NM_000416.3:c.238A>C MANE Select NP_000407.1:p.Ile80Leu