ClinGen Allele Registry
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Canonical Allele Identifier:
CA221787633
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr11:g.48212805C>A
GRCh37
chr11:g.48234357C>A
Linked Data - Sequence & Population
gnomAD v2:
11:48234357 C / A
gnomAD v3:
11:48212805 C / A
gnomAD v4:
chr11-48212805-C-A
Joint Max Group AF
0.00689364 (AFR)
Genomes Max Group AF
0.00689364 (AFR)
Linked Data - NCBI & NCI
dbSNP:
11039588
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.48212805C>A , CM000673.2:g.48212805C>A
GRCh38
NC_000011.9:g.48234357C>A , CM000673.1:g.48234357C>A
GRCh37
NC_000011.8:g.48190933C>A
NCBI36
Search 100 bp 5'
Search 100 bp 3'