Canonical Allele Identifier: CA365775817
Gene: IFNGR1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.137206241G>T , CM000668.2:g.137206241G>T GRCh38
NC_000006.11:g.137527378G>T , CM000668.1:g.137527378G>T GRCh37
NC_000006.10:g.137569071G>T NCBI36
NG_007394.1:g.18190C>A , LRG_66:g.18190C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000414770.6:c.238C>A ENSP00000394230.2:p.His80Asn
ENST00000458076.6:c.201-35C>A ENSP00000389249.2:n.201-35C>A
ENST00000696693.1:c.145C>A ENSP00000512814.1:p.His49Asn
ENST00000696694.1:c.268C>A ENSP00000512815.1:p.His90Asn
ENST00000696695.1:c.268C>A ENSP00000512816.1:p.His90Asn
ENST00000696696.1:c.*167C>A ENSP00000512817.1:n.*167C>A
ENST00000696697.1:c.214C>A ENSP00000512818.1:p.His72Asn
ENST00000696698.1:c.268C>A ENSP00000512819.1:p.His90Asn
ENST00000696699.1:c.184C>A ENSP00000512820.1:p.His62Asn
ENST00000367739.9:c.268C>A MANE Select ENSP00000356713.5:p.His90Asn
ENST00000642390.1:c.211C>A ENSP00000496468.1:p.His71Asn
ENST00000643119.1:c.388C>A ENSP00000495934.1:n.388C>A
ENST00000644894.1:c.145C>A ENSP00000495272.1:p.His49Asn
ENST00000645045.1:c.377C>A
ENST00000645753.1:c.145C>A ENSP00000495103.1:p.His49Asn
ENST00000646036.1:c.238C>A ENSP00000496387.1:p.His80Asn
ENST00000646898.1:c.238C>A ENSP00000494069.1:p.His80Asn
ENST00000647124.1:c.145C>A ENSP00000496549.1:p.His49Asn
ENST00000367739.8:c.268C>A ENSP00000356713.4:p.His90Asn
ENST00000414770.5:c.238C>A ENSP00000394230.1:p.His80Asn
ENST00000458076.5:c.201-35C>A ENSP00000389249.1:n.201-35C>A
ENST00000543628.5:c.268C>A ENSP00000443282.2:p.His90Asn
NM_000416.2:c.268C>A , LRG_66t1:c.268C>A NP_000407.1:p.His90Asn
XM_006715470.2:c.238C>A XP_006715533.1:p.His80Asn
XM_006715471.2:c.145C>A XP_006715534.1:p.His49Asn
XM_011535793.1:c.238C>A XP_011534095.1:p.His80Asn
XM_011535794.1:c.238C>A XP_011534096.1:p.His80Asn
NM_001363526.1:c.238C>A NP_001350455.1:p.His80Asn
NM_001363527.1:c.145C>A NP_001350456.1:p.His49Asn
XM_006715470.3:c.238C>A XP_006715533.1:p.His80Asn
XM_011535793.2:c.238C>A XP_011534095.1:p.His80Asn
NM_000416.3:c.268C>A MANE Select NP_000407.1:p.His90Asn