Canonical Allele Identifier: CA11193260
Gene: IL18R1 HGNC NCBI
COSMIC:
COSN6671309 (not active)
MyVariant.info:
GRCh38 chr2:g.102354740T>C
GRCh37 chr2:g.102971200T>C
gnomAD v2:
2:102971200 T / C
gnomAD v3:
2:102354740 T / C
gnomAD v4:
chr2-102354740-T-C
Joint Max Group AF 0.69504357 (AFR)
Genomes Max Group AF 0.69504357 (AFR)
dbSNP:
9807989
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.102354740T>C , CM000664.2:g.102354740T>C GRCh38
NC_000002.11:g.102971200T>C , CM000664.1:g.102971200T>C GRCh37
NC_000002.10:g.102337632T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000410040.5:c.-28-7893T>C ENSP00000386663.1:n.-28-7893T>C
Search 100 bp 5'
Search 100 bp 3'