ClinGen Allele Registry
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Canonical Allele Identifier:
CA688709574
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr12:g.4009151G>C
GRCh37
chr12:g.4118317G>C
Linked Data - Sequence & Population
gnomAD v3:
12:4009151 G / C
gnomAD v4:
chr12-4009151-G-C
Joint Max Group AF
0.00000801 (AFR)
Genomes Max Group AF
0.00000801 (AFR)
Linked Data - NCBI & NCI
dbSNP:
4238010
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.4009151G>C , CM000674.2:g.4009151G>C
GRCh38
NC_000012.11:g.4118317G>C , CM000674.1:g.4118317G>C
GRCh37
NC_000012.10:g.3988578G>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'