Canonical Allele Identifier: CA365775649
Gene: IFNGR1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.137206166T>G , CM000668.2:g.137206166T>G GRCh38
NC_000006.11:g.137527303T>G , CM000668.1:g.137527303T>G GRCh37
NC_000006.10:g.137568996T>G NCBI36
NG_007394.1:g.18265A>C , LRG_66:g.18265A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000414770.6:c.313A>C ENSP00000394230.2:p.Lys105Gln
ENST00000458076.6:c.241A>C ENSP00000389249.2:p.Lys81Gln
ENST00000696693.1:c.220A>C ENSP00000512814.1:p.Lys74Gln
ENST00000696694.1:c.343A>C ENSP00000512815.1:p.Lys115Gln
ENST00000696695.1:c.343A>C ENSP00000512816.1:p.Lys115Gln
ENST00000696696.1:c.*242A>C ENSP00000512817.1:n.*242A>C
ENST00000696697.1:c.289A>C ENSP00000512818.1:p.Lys97Gln
ENST00000696698.1:c.343A>C ENSP00000512819.1:p.Lys115Gln
ENST00000696699.1:c.259A>C ENSP00000512820.1:p.Lys87Gln
ENST00000367739.9:c.343A>C MANE Select ENSP00000356713.5:p.Lys115Gln
ENST00000642390.1:c.286A>C ENSP00000496468.1:p.Lys96Gln
ENST00000643119.1:c.463A>C ENSP00000495934.1:n.463A>C
ENST00000644894.1:c.220A>C ENSP00000495272.1:p.Lys74Gln
ENST00000645045.1:c.452A>C
ENST00000645753.1:c.220A>C ENSP00000495103.1:p.Lys74Gln
ENST00000646036.1:c.313A>C ENSP00000496387.1:p.Lys105Gln
ENST00000646898.1:c.313A>C ENSP00000494069.1:p.Lys105Gln
ENST00000647124.1:c.220A>C ENSP00000496549.1:p.Lys74Gln
ENST00000367739.8:c.343A>C ENSP00000356713.4:p.Lys115Gln
ENST00000414770.5:c.313A>C ENSP00000394230.1:p.Lys105Gln
ENST00000458076.5:c.241A>C ENSP00000389249.1:p.Lys81Gln
ENST00000543628.5:c.343A>C ENSP00000443282.2:p.Lys115Gln
NM_000416.2:c.343A>C , LRG_66t1:c.343A>C NP_000407.1:p.Lys115Gln
XM_006715470.2:c.313A>C XP_006715533.1:p.Lys105Gln
XM_006715471.2:c.220A>C XP_006715534.1:p.Lys74Gln
XM_011535793.1:c.313A>C XP_011534095.1:p.Lys105Gln
XM_011535794.1:c.313A>C XP_011534096.1:p.Lys105Gln
NM_001363526.1:c.313A>C NP_001350455.1:p.Lys105Gln
NM_001363527.1:c.220A>C NP_001350456.1:p.Lys74Gln
XM_006715470.3:c.313A>C XP_006715533.1:p.Lys105Gln
XM_011535793.2:c.313A>C XP_011534095.1:p.Lys105Gln
NM_000416.3:c.343A>C MANE Select NP_000407.1:p.Lys115Gln