Canonical Allele Identifier: CA2680500261
Gene: IFNGR1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.137206084A>G , CM000668.2:g.137206084A>G GRCh38
NC_000006.11:g.137527221A>G , CM000668.1:g.137527221A>G GRCh37
NC_000006.10:g.137568914A>G NCBI36
NG_007394.1:g.18347T>C , LRG_66:g.18347T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000414770.6:c.343+52T>C ENSP00000394230.2:n.343+52T>C
ENST00000458076.6:c.271+52T>C ENSP00000389249.2:n.271+52T>C
ENST00000696693.1:c.250+52T>C ENSP00000512814.1:n.250+52T>C
ENST00000696694.1:c.373+52T>C ENSP00000512815.1:n.373+52T>C
ENST00000696695.1:c.373+52T>C ENSP00000512816.1:n.373+52T>C
ENST00000696696.1:c.*272+52T>C ENSP00000512817.1:n.*272+52T>C
ENST00000696697.1:c.319+52T>C ENSP00000512818.1:n.319+52T>C
ENST00000696698.1:c.373+52T>C ENSP00000512819.1:n.373+52T>C
ENST00000696699.1:c.289+52T>C ENSP00000512820.1:n.289+52T>C
ENST00000367739.9:c.373+52T>C MANE Select ENSP00000356713.5:n.373+52T>C
ENST00000642390.1:c.316+52T>C ENSP00000496468.1:n.316+52T>C
ENST00000643119.1:c.493+52T>C ENSP00000495934.1:n.493+52T>C
ENST00000644894.1:c.250+52T>C ENSP00000495272.1:n.250+52T>C
ENST00000645045.1:c.482+52T>C
ENST00000645753.1:c.250+52T>C ENSP00000495103.1:n.250+52T>C
ENST00000646036.1:c.343+52T>C ENSP00000496387.1:n.343+52T>C
ENST00000646898.1:c.343+52T>C ENSP00000494069.1:n.343+52T>C
ENST00000647124.1:c.250+52T>C ENSP00000496549.1:n.250+52T>C
ENST00000367739.8:c.373+52T>C ENSP00000356713.4:n.373+52T>C
ENST00000414770.5:c.343+52T>C ENSP00000394230.1:n.343+52T>C
ENST00000458076.5:c.271+52T>C ENSP00000389249.1:n.271+52T>C
ENST00000543628.5:c.373+52T>C ENSP00000443282.2:n.373+52T>C
NM_000416.2:c.373+52T>C , LRG_66t1:c.373+52T>C NP_000407.1:n.373+52T>C
XM_006715470.2:c.343+52T>C XP_006715533.1:n.343+52T>C
XM_006715471.2:c.250+52T>C XP_006715534.1:n.250+52T>C
XM_011535793.1:c.343+52T>C XP_011534095.1:n.343+52T>C
XM_011535794.1:c.343+52T>C XP_011534096.1:n.343+52T>C
NM_001363526.1:c.343+52T>C NP_001350455.1:n.343+52T>C
NM_001363527.1:c.250+52T>C NP_001350456.1:n.250+52T>C
XM_006715470.3:c.343+52T>C XP_006715533.1:n.343+52T>C
XM_011535793.2:c.343+52T>C XP_011534095.1:n.343+52T>C
NM_000416.3:c.373+52T>C MANE Select NP_000407.1:n.373+52T>C