Canonical Allele Identifier: CA10621519
Community Standard Title: NM_000416.3(IFNGR1):c.*217T>A
Gene: IFNGR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.137197814A>T , CM000668.2:g.137197814A>T GRCh38
NC_000006.11:g.137518951A>T , CM000668.1:g.137518951A>T GRCh37
NC_000006.10:g.137560644A>T NCBI36
NG_007394.1:g.26617T>A , LRG_66:g.26617T>A

Transcript Alleles

HGVS Amino-acid Change
NM_000416.3:c.*217T>A MANE Select NP_000407.1:n.*217T>A
ENST00000367739.9:c.*217T>A MANE Select ENSP00000356713.5:n.*217T>A
NM_000416.2:c.*217T>A , LRG_66t1:c.*217T>A NP_000407.1:n.*217T>A
NM_001363526.1:c.*217T>A NP_001350455.1:n.*217T>A
NM_001363527.1:c.*217T>A NP_001350456.1:n.*217T>A
ENST00000367739.8:c.*217T>A ENSP00000356713.4:n.*217T>A
ENST00000414770.6:c.*217T>A ENSP00000394230.2:n.*217T>A
ENST00000458076.6:c.*217T>A ENSP00000389249.2:n.*217T>A
ENST00000543628.5:c.*858T>A ENSP00000443282.2:n.*858T>A
ENST00000642390.1:c.*217T>A ENSP00000496468.1:n.*217T>A
ENST00000643119.1:c.1807T>A ENSP00000495934.1:n.1807T>A
ENST00000644894.1:c.*217T>A ENSP00000495272.1:n.*217T>A
ENST00000645045.1:c.1796T>A
ENST00000645753.1:c.*217T>A ENSP00000495103.1:n.*217T>A
ENST00000646036.1:c.*217T>A ENSP00000496387.1:n.*217T>A
ENST00000646898.1:c.*217T>A ENSP00000494069.1:n.*217T>A
ENST00000647124.1:c.*217T>A ENSP00000496549.1:n.*217T>A
ENST00000696693.1:c.*217T>A ENSP00000512814.1:n.*217T>A
ENST00000696694.1:c.*785T>A ENSP00000512815.1:n.*785T>A
ENST00000696695.1:c.*217T>A ENSP00000512816.1:n.*217T>A
ENST00000696696.1:c.*1586T>A ENSP00000512817.1:n.*1586T>A
XM_006715470.2:c.*217T>A XP_006715533.1:n.*217T>A
XM_006715470.3:c.*217T>A XP_006715533.1:n.*217T>A
XM_006715471.2:c.*217T>A XP_006715534.1:n.*217T>A
XM_011535793.1:c.*217T>A XP_011534095.1:n.*217T>A
XM_011535793.2:c.*217T>A XP_011534095.1:n.*217T>A
XM_011535794.1:c.*217T>A XP_011534096.1:n.*217T>A