Canonical Allele Identifier: CA128494
Community Standard Title: NM_000416.3(IFNGR1):c.2T>A (p.Met1Lys)
Gene: IFNGR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.137219326A>T , CM000668.2:g.137219326A>T GRCh38
NC_000006.11:g.137540463A>T , CM000668.1:g.137540463A>T GRCh37
NC_000006.10:g.137582156A>T NCBI36
NG_007394.1:g.5105T>A , LRG_66:g.5105T>A

Transcript Alleles

HGVS Amino-acid Change
NM_000416.3:c.2T>A MANE Select NP_000407.1:p.Met1Lys
ENST00000367739.9:c.2T>A MANE Select ENSP00000356713.5:p.Met1Lys
NM_000416.2:c.2T>A , LRG_66t1:c.2T>A NP_000407.1:p.Met1Lys
ENST00000367739.8:c.2T>A ENSP00000356713.4:p.Met1Lys
ENST00000414770.5:c.-140T>A ENSP00000394230.1:n.-140T>A
ENST00000414770.6:c.-140T>A ENSP00000394230.2:n.-140T>A
ENST00000458076.5:c.2T>A ENSP00000389249.1:p.Met1Lys
ENST00000458076.6:c.2T>A ENSP00000389249.2:p.Met1Lys
ENST00000478333.1:n.124T>A
ENST00000543628.5:c.2T>A ENSP00000443282.2:p.Met1Lys
ENST00000696694.1:c.2T>A ENSP00000512815.1:p.Met1Lys
ENST00000696695.1:c.2T>A ENSP00000512816.1:p.Met1Lys
ENST00000696696.1:c.2T>A ENSP00000512817.1:p.Met1Lys
ENST00000696698.1:c.2T>A ENSP00000512819.1:p.Met1Lys
XM_011535793.1:c.-140T>A XP_011534095.1:n.-140T>A
XM_011535793.2:c.-140T>A XP_011534095.1:n.-140T>A