Canonical Allele Identifier: CA10626121

Gene: IFNGR1

Linked Data

• ClinVar Variation Id: 355565
• ClinVar RCV Id: RCV000336756 ; RCV001706978 ; RCV003153563 ; RCV003488569 ; RCV001706977 ; RCV001706979
• dbSNP Id: rs2234711
• gnomAD v2: 6-137540520-A-G
• gnomAD v3: 6-137219383-A-G
• gnomAD v4: 6-137219383-A-G
• MyVariant Identifiers: chr6:g.137540520A>G (hg19) ; chr6:g.137219383A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.137219383A>G , CM000668.2:g.137219383A>G	GRCh38
NC_000006.11:g.137540520A>G , CM000668.1:g.137540520A>G	GRCh37
NC_000006.10:g.137582213A>G	NCBI36
NG_007394.1:g.5048T>C , LRG_66:g.5048T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000414770.6:c.-197T>C	ENSP00000394230.2:n.-197T>C
ENST00000458076.6:c.-56T>C	ENSP00000389249.2:n.-56T>C
ENST00000696694.1:c.-56T>C	ENSP00000512815.1:n.-56T>C
ENST00000696695.1:c.-56T>C	ENSP00000512816.1:n.-56T>C
ENST00000367739.9:c.-56T>C MANE Select	ENSP00000356713.5:n.-56T>C
ENST00000367739.8:c.-56T>C	ENSP00000356713.4:n.-56T>C
ENST00000414770.5:c.-197T>C	ENSP00000394230.1:n.-197T>C
ENST00000458076.5:c.-56T>C	ENSP00000389249.1:n.-56T>C
ENST00000478333.1:n.67T>C
NM_000416.2:c.-56T>C , LRG_66t1:c.-56T>C	NP_000407.1:n.-56T>C
XM_011535793.1:c.-197T>C	XP_011534095.1:n.-197T>C
XM_011535793.2:c.-197T>C	XP_011534095.1:n.-197T>C
NM_000416.3:c.-56T>C MANE Select	NP_000407.1:n.-56T>C