Canonical Allele Identifier: CA4018959

Gene: IFNGR1

Linked Data

• ClinVar Variation Id: 2164331
• ClinVar RCV Id: RCV003073578
• dbSNP Id: rs779677441
• ExAC: 6:137525495 C / A
• gnomAD v2: 6-137525495-C-A
• gnomAD v4: 6-137204358-C-A
• MyVariant Identifiers: chr6:g.137525495C>A (hg19) ; chr6:g.137204358C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.137204358C>A , CM000668.2:g.137204358C>A	GRCh38
NC_000006.11:g.137525495C>A , CM000668.1:g.137525495C>A	GRCh37
NC_000006.10:g.137567188C>A	NCBI36
NG_007394.1:g.20073G>T , LRG_66:g.20073G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000414770.6:c.490G>T	ENSP00000394230.2:p.Val164Leu
ENST00000458076.6:c.418G>T	ENSP00000389249.2:p.Val140Leu
ENST00000696693.1:c.397G>T	ENSP00000512814.1:p.Val133Leu
ENST00000696694.1:c.520G>T	ENSP00000512815.1:p.Val174Leu
ENST00000696695.1:c.520G>T	ENSP00000512816.1:p.Val174Leu
ENST00000696696.1:c.*419G>T	ENSP00000512817.1:n.*419G>T
ENST00000696697.1:c.466G>T	ENSP00000512818.1:p.Val156Leu
ENST00000696698.1:c.520G>T	ENSP00000512819.1:p.Val174Leu
ENST00000696699.1:c.436G>T	ENSP00000512820.1:p.Val146Leu
ENST00000367739.9:c.520G>T MANE Select	ENSP00000356713.5:p.Val174Leu
ENST00000642390.1:c.463G>T	ENSP00000496468.1:p.Val155Leu
ENST00000643119.1:c.640G>T	ENSP00000495934.1:n.640G>T
ENST00000644894.1:c.397G>T	ENSP00000495272.1:p.Val133Leu
ENST00000645045.1:c.629G>T
ENST00000645753.1:c.397G>T	ENSP00000495103.1:p.Val133Leu
ENST00000646036.1:c.490G>T	ENSP00000496387.1:p.Val164Leu
ENST00000646898.1:c.490G>T	ENSP00000494069.1:p.Val164Leu
ENST00000647124.1:c.397G>T	ENSP00000496549.1:p.Val133Leu
ENST00000367739.8:c.520G>T	ENSP00000356713.4:p.Val174Leu
ENST00000458076.5:c.418G>T	ENSP00000389249.1:p.Val140Leu
ENST00000543628.5:c.520G>T	ENSP00000443282.2:p.Val174Leu
NM_000416.2:c.520G>T , LRG_66t1:c.520G>T	NP_000407.1:p.Val174Leu
XM_006715470.2:c.490G>T	XP_006715533.1:p.Val164Leu
XM_006715471.2:c.397G>T	XP_006715534.1:p.Val133Leu
XM_011535793.1:c.490G>T	XP_011534095.1:p.Val164Leu
XM_011535794.1:c.490G>T	XP_011534096.1:p.Val164Leu
NM_001363526.1:c.490G>T	NP_001350455.1:p.Val164Leu
NM_001363527.1:c.397G>T	NP_001350456.1:p.Val133Leu
XM_006715470.3:c.490G>T	XP_006715533.1:p.Val164Leu
XM_011535793.2:c.490G>T	XP_011534095.1:p.Val164Leu
NM_000416.3:c.520G>T MANE Select	NP_000407.1:p.Val174Leu