Canonical Allele Identifier: CA365775872

Gene: IFNGR1

Linked Data

• dbSNP Id: rs2114487300
• gnomAD v4: 6-137206265-G-C
• MyVariant Identifiers: chr6:g.137527402G>C (hg19) ; chr6:g.137206265G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.137206265G>C , CM000668.2:g.137206265G>C	GRCh38
NC_000006.11:g.137527402G>C , CM000668.1:g.137527402G>C	GRCh37
NC_000006.10:g.137569095G>C	NCBI36
NG_007394.1:g.18166C>G , LRG_66:g.18166C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000414770.6:c.214C>G	ENSP00000394230.2:p.His72Asp
ENST00000458076.6:c.201-59C>G	ENSP00000389249.2:n.201-59C>G
ENST00000696693.1:c.121C>G	ENSP00000512814.1:p.His41Asp
ENST00000696694.1:c.244C>G	ENSP00000512815.1:p.His82Asp
ENST00000696695.1:c.244C>G	ENSP00000512816.1:p.His82Asp
ENST00000696696.1:c.*143C>G	ENSP00000512817.1:n.*143C>G
ENST00000696697.1:c.190C>G	ENSP00000512818.1:p.His64Asp
ENST00000696698.1:c.244C>G	ENSP00000512819.1:p.His82Asp
ENST00000696699.1:c.160C>G	ENSP00000512820.1:p.His54Asp
ENST00000367739.9:c.244C>G MANE Select	ENSP00000356713.5:p.His82Asp
ENST00000642390.1:c.187C>G	ENSP00000496468.1:p.His63Asp
ENST00000643119.1:c.364C>G	ENSP00000495934.1:n.364C>G
ENST00000644894.1:c.121C>G	ENSP00000495272.1:p.His41Asp
ENST00000645045.1:c.353C>G
ENST00000645753.1:c.121C>G	ENSP00000495103.1:p.His41Asp
ENST00000646036.1:c.214C>G	ENSP00000496387.1:p.His72Asp
ENST00000646898.1:c.214C>G	ENSP00000494069.1:p.His72Asp
ENST00000647124.1:c.121C>G	ENSP00000496549.1:p.His41Asp
ENST00000367739.8:c.244C>G	ENSP00000356713.4:p.His82Asp
ENST00000414770.5:c.214C>G	ENSP00000394230.1:p.His72Asp
ENST00000458076.5:c.201-59C>G	ENSP00000389249.1:n.201-59C>G
ENST00000543628.5:c.244C>G	ENSP00000443282.2:p.His82Asp
NM_000416.2:c.244C>G , LRG_66t1:c.244C>G	NP_000407.1:p.His82Asp
XM_006715470.2:c.214C>G	XP_006715533.1:p.His72Asp
XM_006715471.2:c.121C>G	XP_006715534.1:p.His41Asp
XM_011535793.1:c.214C>G	XP_011534095.1:p.His72Asp
XM_011535794.1:c.214C>G	XP_011534096.1:p.His72Asp
NM_001363526.1:c.214C>G	NP_001350455.1:p.His72Asp
NM_001363527.1:c.121C>G	NP_001350456.1:p.His41Asp
XM_006715470.3:c.214C>G	XP_006715533.1:p.His72Asp
XM_011535793.2:c.214C>G	XP_011534095.1:p.His72Asp
NM_000416.3:c.244C>G MANE Select	NP_000407.1:p.His82Asp