ClinGen Allele Registry
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Canonical Allele Identifier:
CA245454317
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr12:g.130906209C>G
GRCh37
chr12:g.131390754C>G
Linked Data - Sequence & Population
gnomAD v2:
12:131390754 C / G
gnomAD v3:
12:130906209 C / G
gnomAD v4:
chr12-130906209-C-G
Joint Max Group AF
0.71129166 (AFR)
Genomes Max Group AF
0.71129166 (AFR)
Linked Data - NCBI & NCI
dbSNP:
7299940
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.130906209C>G , CM000674.2:g.130906209C>G
GRCh38
NC_000012.11:g.131390754C>G , CM000674.1:g.131390754C>G
GRCh37
NC_000012.10:g.129956707C>G
NCBI36
Search 100 bp 5'
Search 100 bp 3'