Canonical Allele Identifier: CA4019089

Gene: IFNGR1

Linked Data

• ClinVar Variation Id: 355562
• ClinVar RCV Id: RCV000285373 ; RCV000455036 ; RCV001702356 ; RCV002229902 ; RCV001824754
• dbSNP Id: rs7749390
• ExAC: 6:137540370 A / G
• gnomAD v2: 6-137540370-A-G
• gnomAD v3: 6-137219233-A-G
• gnomAD v4: 6-137219233-A-G
• MyVariant Identifiers: chr6:g.137540370A>G (hg19) ; chr6:g.137219233A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.137219233A>G , CM000668.2:g.137219233A>G	GRCh38
NC_000006.11:g.137540370A>G , CM000668.1:g.137540370A>G	GRCh37
NC_000006.10:g.137582063A>G	NCBI36
NG_007394.1:g.5198T>C , LRG_66:g.5198T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000414770.6:c.-57+10T>C	ENSP00000394230.2:n.-57+10T>C
ENST00000458076.6:c.85+10T>C	ENSP00000389249.2:n.85+10T>C
ENST00000696694.1:c.85+10T>C	ENSP00000512815.1:n.85+10T>C
ENST00000696695.1:c.85+10T>C	ENSP00000512816.1:n.85+10T>C
ENST00000696696.1:c.85+10T>C	ENSP00000512817.1:n.85+10T>C
ENST00000696697.1:c.-163+10T>C	ENSP00000512818.1:n.-163+10T>C
ENST00000696698.1:c.85+10T>C	ENSP00000512819.1:n.85+10T>C
ENST00000367739.9:c.85+10T>C MANE Select	ENSP00000356713.5:n.85+10T>C
ENST00000643119.1:c.70+10T>C	ENSP00000495934.1:n.70+10T>C
ENST00000644894.1:c.-600T>C	ENSP00000495272.1:n.-600T>C
ENST00000645045.1:c.71+10T>C
ENST00000367739.8:c.85+10T>C	ENSP00000356713.4:n.85+10T>C
ENST00000414770.5:c.-57+10T>C	ENSP00000394230.1:n.-57+10T>C
ENST00000458076.5:c.85+10T>C	ENSP00000389249.1:n.85+10T>C
ENST00000478333.1:n.207+10T>C
ENST00000543628.5:c.85+10T>C	ENSP00000443282.2:n.85+10T>C
NM_000416.2:c.85+10T>C , LRG_66t1:c.85+10T>C	NP_000407.1:n.85+10T>C
XM_011535793.1:c.-57+10T>C	XP_011534095.1:n.-57+10T>C
XM_011535793.2:c.-57+10T>C	XP_011534095.1:n.-57+10T>C
NM_000416.3:c.85+10T>C MANE Select	NP_000407.1:n.85+10T>C