Canonical Allele Identifier: CA4018756

Gene: IFNGR1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.137198101A>G , CM000668.2:g.137198101A>G	GRCh38
NC_000006.11:g.137519238A>G , CM000668.1:g.137519238A>G	GRCh37
NC_000006.10:g.137560931A>G	NCBI36
NG_007394.1:g.26330T>C , LRG_66:g.26330T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000416.3:c.1400T>C MANE Select	NP_000407.1:p.Leu467Pro
ENST00000367739.9:c.1400T>C MANE Select	ENSP00000356713.5:p.Leu467Pro
NM_000416.2:c.1400T>C , LRG_66t1:c.1400T>C	NP_000407.1:p.Leu467Pro
NM_001363526.1:c.1370T>C	NP_001350455.1:p.Leu457Pro
NM_001363527.1:c.1277T>C	NP_001350456.1:p.Leu426Pro
ENST00000367739.8:c.1400T>C	ENSP00000356713.4:p.Leu467Pro
ENST00000414770.6:c.1370T>C	ENSP00000394230.2:p.Leu457Pro
ENST00000458076.6:c.1298T>C	ENSP00000389249.2:p.Leu433Pro
ENST00000543628.5:c.*571T>C	ENSP00000443282.2:n.*571T>C
ENST00000642390.1:c.1343T>C	ENSP00000496468.1:p.Leu448Pro
ENST00000643119.1:c.1520T>C	ENSP00000495934.1:n.1520T>C
ENST00000644894.1:c.1277T>C	ENSP00000495272.1:p.Leu426Pro
ENST00000645045.1:c.1509T>C
ENST00000645753.1:c.1277T>C	ENSP00000495103.1:p.Leu426Pro
ENST00000646036.1:c.1370T>C	ENSP00000496387.1:p.Leu457Pro
ENST00000646898.1:c.1370T>C	ENSP00000494069.1:p.Leu457Pro
ENST00000647124.1:c.1277T>C	ENSP00000496549.1:p.Leu426Pro
ENST00000696693.1:c.1277T>C	ENSP00000512814.1:p.Leu426Pro
ENST00000696694.1:c.*498T>C	ENSP00000512815.1:n.*498T>C
ENST00000696695.1:c.1238T>C	ENSP00000512816.1:p.Leu413Pro
ENST00000696696.1:c.*1299T>C	ENSP00000512817.1:n.*1299T>C
XM_006715470.2:c.1370T>C	XP_006715533.1:p.Leu457Pro
XM_006715470.3:c.1370T>C	XP_006715533.1:p.Leu457Pro
XM_006715471.2:c.1277T>C	XP_006715534.1:p.Leu426Pro
XM_011535793.1:c.1370T>C	XP_011534095.1:p.Leu457Pro
XM_011535793.2:c.1370T>C	XP_011534095.1:p.Leu457Pro
XM_011535794.1:c.1370T>C	XP_011534096.1:p.Leu457Pro