Canonical Allele Identifier: CA365775751
Gene: IFNGR1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.137206212C>T , CM000668.2:g.137206212C>T GRCh38
NC_000006.11:g.137527349C>T , CM000668.1:g.137527349C>T GRCh37
NC_000006.10:g.137569042C>T NCBI36
NG_007394.1:g.18219G>A , LRG_66:g.18219G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000414770.6:c.267G>A ENSP00000394230.2:p.Trp89Ter
ENST00000458076.6:c.201-6G>A ENSP00000389249.2:n.201-6G>A
ENST00000696693.1:c.174G>A ENSP00000512814.1:p.Trp58Ter
ENST00000696694.1:c.297G>A ENSP00000512815.1:p.Trp99Ter
ENST00000696695.1:c.297G>A ENSP00000512816.1:p.Trp99Ter
ENST00000696696.1:c.*196G>A ENSP00000512817.1:n.*196G>A
ENST00000696697.1:c.243G>A ENSP00000512818.1:p.Trp81Ter
ENST00000696698.1:c.297G>A ENSP00000512819.1:p.Trp99Ter
ENST00000696699.1:c.213G>A ENSP00000512820.1:p.Trp71Ter
ENST00000367739.9:c.297G>A MANE Select ENSP00000356713.5:p.Trp99Ter
ENST00000642390.1:c.240G>A ENSP00000496468.1:p.Trp80Ter
ENST00000643119.1:c.417G>A ENSP00000495934.1:n.417G>A
ENST00000644894.1:c.174G>A ENSP00000495272.1:p.Trp58Ter
ENST00000645045.1:c.406G>A
ENST00000645753.1:c.174G>A ENSP00000495103.1:p.Trp58Ter
ENST00000646036.1:c.267G>A ENSP00000496387.1:p.Trp89Ter
ENST00000646898.1:c.267G>A ENSP00000494069.1:p.Trp89Ter
ENST00000647124.1:c.174G>A ENSP00000496549.1:p.Trp58Ter
ENST00000367739.8:c.297G>A ENSP00000356713.4:p.Trp99Ter
ENST00000414770.5:c.267G>A ENSP00000394230.1:p.Trp89Ter
ENST00000458076.5:c.201-6G>A ENSP00000389249.1:n.201-6G>A
ENST00000543628.5:c.297G>A ENSP00000443282.2:p.Trp99Ter
NM_000416.2:c.297G>A , LRG_66t1:c.297G>A NP_000407.1:p.Trp99Ter
XM_006715470.2:c.267G>A XP_006715533.1:p.Trp89Ter
XM_006715471.2:c.174G>A XP_006715534.1:p.Trp58Ter
XM_011535793.1:c.267G>A XP_011534095.1:p.Trp89Ter
XM_011535794.1:c.267G>A XP_011534096.1:p.Trp89Ter
NM_001363526.1:c.267G>A NP_001350455.1:p.Trp89Ter
NM_001363527.1:c.174G>A NP_001350456.1:p.Trp58Ter
XM_006715470.3:c.267G>A XP_006715533.1:p.Trp89Ter
XM_011535793.2:c.267G>A XP_011534095.1:p.Trp89Ter
NM_000416.3:c.297G>A MANE Select NP_000407.1:p.Trp99Ter