Canonical Allele Identifier: CA365776041

Gene: IFNGR1

Linked Data

• MyVariant Identifiers: chr6:g.137528128C>G (hg19) ; chr6:g.137206991C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.137206991C>G , CM000668.2:g.137206991C>G	GRCh38
NC_000006.11:g.137528128C>G , CM000668.1:g.137528128C>G	GRCh37
NC_000006.10:g.137569821C>G	NCBI36
NG_007394.1:g.17440G>C , LRG_66:g.17440G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000414770.6:c.142G>C	ENSP00000394230.2:p.Val48Leu
ENST00000458076.6:c.172G>C	ENSP00000389249.2:p.Val58Leu
ENST00000696693.1:c.49G>C	ENSP00000512814.1:p.Val17Leu
ENST00000696694.1:c.172G>C	ENSP00000512815.1:p.Val58Leu
ENST00000696695.1:c.172G>C	ENSP00000512816.1:p.Val58Leu
ENST00000696696.1:c.*71G>C	ENSP00000512817.1:n.*71G>C
ENST00000696697.1:c.118G>C	ENSP00000512818.1:p.Val40Leu
ENST00000696698.1:c.172G>C	ENSP00000512819.1:p.Val58Leu
ENST00000696699.1:c.88G>C	ENSP00000512820.1:p.Val30Leu
ENST00000367739.9:c.172G>C MANE Select	ENSP00000356713.5:p.Val58Leu
ENST00000642390.1:c.115G>C	ENSP00000496468.1:p.Val39Leu
ENST00000643119.1:c.292G>C	ENSP00000495934.1:n.292G>C
ENST00000644894.1:c.49G>C	ENSP00000495272.1:p.Val17Leu
ENST00000645045.1:c.281G>C
ENST00000645753.1:c.49G>C	ENSP00000495103.1:p.Val17Leu
ENST00000646036.1:c.142G>C	ENSP00000496387.1:p.Val48Leu
ENST00000646898.1:c.142G>C	ENSP00000494069.1:p.Val48Leu
ENST00000647124.1:c.49G>C	ENSP00000496549.1:p.Val17Leu
ENST00000367739.8:c.172G>C	ENSP00000356713.4:p.Val58Leu
ENST00000414770.5:c.142G>C	ENSP00000394230.1:p.Val48Leu
ENST00000458076.5:c.172G>C	ENSP00000389249.1:p.Val58Leu
ENST00000478333.1:n.294G>C
ENST00000543628.5:c.172G>C	ENSP00000443282.2:p.Val58Leu
NM_000416.2:c.172G>C , LRG_66t1:c.172G>C	NP_000407.1:p.Val58Leu
XM_006715470.2:c.142G>C	XP_006715533.1:p.Val48Leu
XM_006715471.2:c.49G>C	XP_006715534.1:p.Val17Leu
XM_011535793.1:c.142G>C	XP_011534095.1:p.Val48Leu
XM_011535794.1:c.142G>C	XP_011534096.1:p.Val48Leu
NM_001363526.1:c.142G>C	NP_001350455.1:p.Val48Leu
NM_001363527.1:c.49G>C	NP_001350456.1:p.Val17Leu
XM_006715470.3:c.142G>C	XP_006715533.1:p.Val48Leu
XM_011535793.2:c.142G>C	XP_011534095.1:p.Val48Leu
NM_000416.3:c.172G>C MANE Select	NP_000407.1:p.Val58Leu