ClinGen Allele Registry
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Canonical Allele Identifier:
CA300346774
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr18:g.49001697G>C
GRCh37
chr18:g.46528067G>C
Linked Data - Sequence & Population
gnomAD v2:
18:46528067 G / C
gnomAD v3:
18:49001697 G / C
gnomAD v4:
chr18-49001697-G-C
Joint Max Group AF
0.00000797 (AFR)
Genomes Max Group AF
0.00000797 (AFR)
Linked Data - NCBI & NCI
dbSNP:
540247685
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.49001697G>C , CM000680.2:g.49001697G>C
GRCh38
NC_000018.9:g.46528067G>C , CM000680.1:g.46528067G>C
GRCh37
NC_000018.8:g.44782065G>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'