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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA124196
Gene: IL1B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
14671
ClinVar RCV Id:
RCV000015783
dbSNP Id:
rs1143627
gnomAD v2:
2-113594387-G-A
gnomAD v3:
2-112836810-G-A
gnomAD v4:
2-112836810-G-A
MyVariant Identifiers:
chr2:g.113594387G>A (hg19)
chr2:g.112836810G>A (hg38)
PubMed:
PMID:10746728
PMID:11346459
PMID:16550552
PMID:25329476
Allelic Epigenome:
Alellic Epigenome (raw data)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.112836810G>A , CM000664.2:g.112836810G>A
GRCh38
NC_000002.11:g.113594387G>A , CM000664.1:g.113594387G>A
GRCh37
NC_000002.10:g.113310858G>A
NCBI36
NG_008851.1:g.4970C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000263341.6:c.-118C>T
ENSP00000263341.2:n.-118C>T
ENST00000418817.5:c.-146C>T
ENSP00000407219.1:n.-146C>T
XM_017003988.2:c.-149C>T
XP_016859477.1:n.-149C>T
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