Canonical Allele Identifier: CA365775880

Gene: IFNGR1

Linked Data

• dbSNP Id: rs1196793520
• gnomAD v2: 6-137527406-A-C
• gnomAD v4: 6-137206269-A-C
• MyVariant Identifiers: chr6:g.137527406A>C (hg19) ; chr6:g.137206269A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.137206269A>C , CM000668.2:g.137206269A>C	GRCh38
NC_000006.11:g.137527406A>C , CM000668.1:g.137527406A>C	GRCh37
NC_000006.10:g.137569099A>C	NCBI36
NG_007394.1:g.18162T>G , LRG_66:g.18162T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000414770.6:c.210T>G	ENSP00000394230.2:p.Ile70Met
ENST00000458076.6:c.201-63T>G	ENSP00000389249.2:n.201-63T>G
ENST00000696693.1:c.117T>G	ENSP00000512814.1:p.Ile39Met
ENST00000696694.1:c.240T>G	ENSP00000512815.1:p.Ile80Met
ENST00000696695.1:c.240T>G	ENSP00000512816.1:p.Ile80Met
ENST00000696696.1:c.*139T>G	ENSP00000512817.1:n.*139T>G
ENST00000696697.1:c.186T>G	ENSP00000512818.1:p.Ile62Met
ENST00000696698.1:c.240T>G	ENSP00000512819.1:p.Ile80Met
ENST00000696699.1:c.156T>G	ENSP00000512820.1:p.Ile52Met
ENST00000367739.9:c.240T>G MANE Select	ENSP00000356713.5:p.Ile80Met
ENST00000642390.1:c.183T>G	ENSP00000496468.1:p.Ile61Met
ENST00000643119.1:c.360T>G	ENSP00000495934.1:n.360T>G
ENST00000644894.1:c.117T>G	ENSP00000495272.1:p.Ile39Met
ENST00000645045.1:c.349T>G
ENST00000645753.1:c.117T>G	ENSP00000495103.1:p.Ile39Met
ENST00000646036.1:c.210T>G	ENSP00000496387.1:p.Ile70Met
ENST00000646898.1:c.210T>G	ENSP00000494069.1:p.Ile70Met
ENST00000647124.1:c.117T>G	ENSP00000496549.1:p.Ile39Met
ENST00000367739.8:c.240T>G	ENSP00000356713.4:p.Ile80Met
ENST00000414770.5:c.210T>G	ENSP00000394230.1:p.Ile70Met
ENST00000458076.5:c.201-63T>G	ENSP00000389249.1:n.201-63T>G
ENST00000543628.5:c.240T>G	ENSP00000443282.2:p.Ile80Met
NM_000416.2:c.240T>G , LRG_66t1:c.240T>G	NP_000407.1:p.Ile80Met
XM_006715470.2:c.210T>G	XP_006715533.1:p.Ile70Met
XM_006715471.2:c.117T>G	XP_006715534.1:p.Ile39Met
XM_011535793.1:c.210T>G	XP_011534095.1:p.Ile70Met
XM_011535794.1:c.210T>G	XP_011534096.1:p.Ile70Met
NM_001363526.1:c.210T>G	NP_001350455.1:p.Ile70Met
NM_001363527.1:c.117T>G	NP_001350456.1:p.Ile39Met
XM_006715470.3:c.210T>G	XP_006715533.1:p.Ile70Met
XM_011535793.2:c.210T>G	XP_011534095.1:p.Ile70Met
NM_000416.3:c.240T>G MANE Select	NP_000407.1:p.Ile80Met