Canonical Allele Identifier: CA4018961

Gene: IFNGR1

Linked Data

• dbSNP Id: rs768132601
• ExAC: 6:137525498 T / C
• gnomAD v2: 6-137525498-T-C
• gnomAD v4: 6-137204361-T-C
• MyVariant Identifiers: chr6:g.137525498T>C (hg19) ; chr6:g.137204361T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.137204361T>C , CM000668.2:g.137204361T>C	GRCh38
NC_000006.11:g.137525498T>C , CM000668.1:g.137525498T>C	GRCh37
NC_000006.10:g.137567191T>C	NCBI36
NG_007394.1:g.20070A>G , LRG_66:g.20070A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000414770.6:c.487A>G	ENSP00000394230.2:p.Asn163Asp
ENST00000458076.6:c.415A>G	ENSP00000389249.2:p.Asn139Asp
ENST00000696693.1:c.394A>G	ENSP00000512814.1:p.Asn132Asp
ENST00000696694.1:c.517A>G	ENSP00000512815.1:p.Asn173Asp
ENST00000696695.1:c.517A>G	ENSP00000512816.1:p.Asn173Asp
ENST00000696696.1:c.*416A>G	ENSP00000512817.1:n.*416A>G
ENST00000696697.1:c.463A>G	ENSP00000512818.1:p.Asn155Asp
ENST00000696698.1:c.517A>G	ENSP00000512819.1:p.Asn173Asp
ENST00000696699.1:c.433A>G	ENSP00000512820.1:p.Asn145Asp
ENST00000367739.9:c.517A>G MANE Select	ENSP00000356713.5:p.Asn173Asp
ENST00000642390.1:c.460A>G	ENSP00000496468.1:p.Asn154Asp
ENST00000643119.1:c.637A>G	ENSP00000495934.1:n.637A>G
ENST00000644894.1:c.394A>G	ENSP00000495272.1:p.Asn132Asp
ENST00000645045.1:c.626A>G
ENST00000645753.1:c.394A>G	ENSP00000495103.1:p.Asn132Asp
ENST00000646036.1:c.487A>G	ENSP00000496387.1:p.Asn163Asp
ENST00000646898.1:c.487A>G	ENSP00000494069.1:p.Asn163Asp
ENST00000647124.1:c.394A>G	ENSP00000496549.1:p.Asn132Asp
ENST00000367739.8:c.517A>G	ENSP00000356713.4:p.Asn173Asp
ENST00000458076.5:c.415A>G	ENSP00000389249.1:p.Asn139Asp
ENST00000543628.5:c.517A>G	ENSP00000443282.2:p.Asn173Asp
NM_000416.2:c.517A>G , LRG_66t1:c.517A>G	NP_000407.1:p.Asn173Asp
XM_006715470.2:c.487A>G	XP_006715533.1:p.Asn163Asp
XM_006715471.2:c.394A>G	XP_006715534.1:p.Asn132Asp
XM_011535793.1:c.487A>G	XP_011534095.1:p.Asn163Asp
XM_011535794.1:c.487A>G	XP_011534096.1:p.Asn163Asp
NM_001363526.1:c.487A>G	NP_001350455.1:p.Asn163Asp
NM_001363527.1:c.394A>G	NP_001350456.1:p.Asn132Asp
XM_006715470.3:c.487A>G	XP_006715533.1:p.Asn163Asp
XM_011535793.2:c.487A>G	XP_011534095.1:p.Asn163Asp
NM_000416.3:c.517A>G MANE Select	NP_000407.1:p.Asn173Asp