Canonical Allele Identifier: CA204565

Gene: IFNGR1

Linked Data

• ClinVar Variation Id: 208588
• ClinVar RCV Id: RCV000190596 ; RCV001027575 ; RCV001358286 ; RCV001262478 ; RCV002229015
• dbSNP Id: rs749956849
• ExAC: 6:137525491 TA / T
• gnomAD v2: 6-137525491-TA-T
• gnomAD v3: 6-137204354-TA-T
• gnomAD v4: 6-137204354-TA-T
• MyVariant Identifiers: chr6:g.137525492del (hg19) ; chr6:g.137204355del (hg38)
• PubMed: PMID:12712974 ; PMID:15589309 ; PMID:19880337

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.137204355del , CM000668.2:g.137204355del	GRCh38
NC_000006.11:g.137525492del , CM000668.1:g.137525492del	GRCh37
NC_000006.10:g.137567185del	NCBI36
NG_007394.1:g.20076del , LRG_66:g.20076del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000414770.6:c.493del	ENSP00000394230.2:p.Tyr165MetfsTer2
ENST00000458076.6:c.421del	ENSP00000389249.2:p.Tyr141MetfsTer2
ENST00000696693.1:c.400del	ENSP00000512814.1:p.Tyr134MetfsTer2
ENST00000696694.1:c.523del	ENSP00000512815.1:p.Tyr175MetfsTer2
ENST00000696695.1:c.523del	ENSP00000512816.1:p.Tyr175MetfsTer2
ENST00000696696.1:c.*422del	ENSP00000512817.1:n.*422del
ENST00000696697.1:c.469del	ENSP00000512818.1:p.Tyr157MetfsTer2
ENST00000696698.1:c.523del	ENSP00000512819.1:p.Tyr175MetfsTer2
ENST00000696699.1:c.439del	ENSP00000512820.1:p.Tyr147MetfsTer2
ENST00000367739.9:c.523del MANE Select	ENSP00000356713.5:p.Tyr175MetfsTer2
ENST00000642390.1:c.466del	ENSP00000496468.1:p.Tyr156MetfsTer2
ENST00000643119.1:c.643del	ENSP00000495934.1:n.643del
ENST00000644894.1:c.400del	ENSP00000495272.1:p.Tyr134MetfsTer2
ENST00000645045.1:c.632del
ENST00000645753.1:c.400del	ENSP00000495103.1:p.Tyr134MetfsTer2
ENST00000646036.1:c.493del	ENSP00000496387.1:p.Tyr165MetfsTer2
ENST00000646898.1:c.493del	ENSP00000494069.1:p.Tyr165MetfsTer2
ENST00000647124.1:c.400del	ENSP00000496549.1:p.Tyr134MetfsTer2
ENST00000367739.8:c.523del	ENSP00000356713.4:p.Tyr175MetfsTer2
ENST00000458076.5:c.421del	ENSP00000389249.1:p.Tyr141MetfsTer2
ENST00000543628.5:c.523del	ENSP00000443282.2:p.Tyr175MetfsTer2
NM_000416.2:c.523del , LRG_66t1:c.523del	NP_000407.1:p.Tyr175MetfsTer2
XM_006715470.2:c.493del	XP_006715533.1:p.Tyr165MetfsTer2
XM_006715471.2:c.400del	XP_006715534.1:p.Tyr134MetfsTer2
XM_011535793.1:c.493del	XP_011534095.1:p.Tyr165MetfsTer2
XM_011535794.1:c.493del	XP_011534096.1:p.Tyr165MetfsTer2
NM_001363526.1:c.493del	NP_001350455.1:p.Tyr165MetfsTer2
NM_001363527.1:c.400del	NP_001350456.1:p.Tyr134MetfsTer2
XM_006715470.3:c.493del	XP_006715533.1:p.Tyr165MetfsTer2
XM_011535793.2:c.493del	XP_011534095.1:p.Tyr165MetfsTer2
NM_000416.3:c.523del MANE Select	NP_000407.1:p.Tyr175MetfsTer2