Canonical Allele Identifier: CA148230902

Gene: IFNGR1

Linked Data

• dbSNP Id: rs559991211
• gnomAD v2: 6-137527400-A-G
• gnomAD v3: 6-137206263-A-G
• gnomAD v4: 6-137206263-A-G
• MyVariant Identifiers: chr6:g.137527400A>G (hg19) ; chr6:g.137206263A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.137206263A>G , CM000668.2:g.137206263A>G	GRCh38
NC_000006.11:g.137527400A>G , CM000668.1:g.137527400A>G	GRCh37
NC_000006.10:g.137569093A>G	NCBI36
NG_007394.1:g.18168T>C , LRG_66:g.18168T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000414770.6:c.216T>C	ENSP00000394230.2:p.His72=
ENST00000458076.6:c.201-57T>C	ENSP00000389249.2:n.201-57T>C
ENST00000696693.1:c.123T>C	ENSP00000512814.1:p.His41=
ENST00000696694.1:c.246T>C	ENSP00000512815.1:p.His82=
ENST00000696695.1:c.246T>C	ENSP00000512816.1:p.His82=
ENST00000696696.1:c.*145T>C	ENSP00000512817.1:n.*145T>C
ENST00000696697.1:c.192T>C	ENSP00000512818.1:p.His64=
ENST00000696698.1:c.246T>C	ENSP00000512819.1:p.His82=
ENST00000696699.1:c.162T>C	ENSP00000512820.1:p.His54=
ENST00000367739.9:c.246T>C MANE Select	ENSP00000356713.5:p.His82=
ENST00000642390.1:c.189T>C	ENSP00000496468.1:p.His63=
ENST00000643119.1:c.366T>C	ENSP00000495934.1:n.366T>C
ENST00000644894.1:c.123T>C	ENSP00000495272.1:p.His41=
ENST00000645045.1:c.355T>C
ENST00000645753.1:c.123T>C	ENSP00000495103.1:p.His41=
ENST00000646036.1:c.216T>C	ENSP00000496387.1:p.His72=
ENST00000646898.1:c.216T>C	ENSP00000494069.1:p.His72=
ENST00000647124.1:c.123T>C	ENSP00000496549.1:p.His41=
ENST00000367739.8:c.246T>C	ENSP00000356713.4:p.His82=
ENST00000414770.5:c.216T>C	ENSP00000394230.1:p.His72=
ENST00000458076.5:c.201-57T>C	ENSP00000389249.1:n.201-57T>C
ENST00000543628.5:c.246T>C	ENSP00000443282.2:p.His82=
NM_000416.2:c.246T>C , LRG_66t1:c.246T>C	NP_000407.1:p.His82=
XM_006715470.2:c.216T>C	XP_006715533.1:p.His72=
XM_006715471.2:c.123T>C	XP_006715534.1:p.His41=
XM_011535793.1:c.216T>C	XP_011534095.1:p.His72=
XM_011535794.1:c.216T>C	XP_011534096.1:p.His72=
NM_001363526.1:c.216T>C	NP_001350455.1:p.His72=
NM_001363527.1:c.123T>C	NP_001350456.1:p.His41=
XM_006715470.3:c.216T>C	XP_006715533.1:p.His72=
XM_011535793.2:c.216T>C	XP_011534095.1:p.His72=
NM_000416.3:c.246T>C MANE Select	NP_000407.1:p.His82=