Canonical Allele Identifier: CA365775724
Gene: IFNGR1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.137206200T>G , CM000668.2:g.137206200T>G GRCh38
NC_000006.11:g.137527337T>G , CM000668.1:g.137527337T>G GRCh37
NC_000006.10:g.137569030T>G NCBI36
NG_007394.1:g.18231A>C , LRG_66:g.18231A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000414770.6:c.279A>C ENSP00000394230.2:p.Lys93Asn
ENST00000458076.6:c.207A>C ENSP00000389249.2:p.Lys69Asn
ENST00000696693.1:c.186A>C ENSP00000512814.1:p.Lys62Asn
ENST00000696694.1:c.309A>C ENSP00000512815.1:p.Lys103Asn
ENST00000696695.1:c.309A>C ENSP00000512816.1:p.Lys103Asn
ENST00000696696.1:c.*208A>C ENSP00000512817.1:n.*208A>C
ENST00000696697.1:c.255A>C ENSP00000512818.1:p.Lys85Asn
ENST00000696698.1:c.309A>C ENSP00000512819.1:p.Lys103Asn
ENST00000696699.1:c.225A>C ENSP00000512820.1:p.Lys75Asn
ENST00000367739.9:c.309A>C MANE Select ENSP00000356713.5:p.Lys103Asn
ENST00000642390.1:c.252A>C ENSP00000496468.1:p.Lys84Asn
ENST00000643119.1:c.429A>C ENSP00000495934.1:n.429A>C
ENST00000644894.1:c.186A>C ENSP00000495272.1:p.Lys62Asn
ENST00000645045.1:c.418A>C
ENST00000645753.1:c.186A>C ENSP00000495103.1:p.Lys62Asn
ENST00000646036.1:c.279A>C ENSP00000496387.1:p.Lys93Asn
ENST00000646898.1:c.279A>C ENSP00000494069.1:p.Lys93Asn
ENST00000647124.1:c.186A>C ENSP00000496549.1:p.Lys62Asn
ENST00000367739.8:c.309A>C ENSP00000356713.4:p.Lys103Asn
ENST00000414770.5:c.279A>C ENSP00000394230.1:p.Lys93Asn
ENST00000458076.5:c.207A>C ENSP00000389249.1:p.Lys69Asn
ENST00000543628.5:c.309A>C ENSP00000443282.2:p.Lys103Asn
NM_000416.2:c.309A>C , LRG_66t1:c.309A>C NP_000407.1:p.Lys103Asn
XM_006715470.2:c.279A>C XP_006715533.1:p.Lys93Asn
XM_006715471.2:c.186A>C XP_006715534.1:p.Lys62Asn
XM_011535793.1:c.279A>C XP_011534095.1:p.Lys93Asn
XM_011535794.1:c.279A>C XP_011534096.1:p.Lys93Asn
NM_001363526.1:c.279A>C NP_001350455.1:p.Lys93Asn
NM_001363527.1:c.186A>C NP_001350456.1:p.Lys62Asn
XM_006715470.3:c.279A>C XP_006715533.1:p.Lys93Asn
XM_011535793.2:c.279A>C XP_011534095.1:p.Lys93Asn
NM_000416.3:c.309A>C MANE Select NP_000407.1:p.Lys103Asn