ClinGen Allele Registry
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Canonical Allele Identifier:
CA13681021
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr12:g.4408974G>C
GRCh37
chr12:g.4518140G>C
Linked Data - Sequence & Population
gnomAD v2:
12:4518140 G / C
gnomAD v3:
12:4408974 G / C
gnomAD v4:
chr12-4408974-G-C
Joint Max Group AF
0.53331036 (NFE)
Genomes Max Group AF
0.53331036 (NFE)
Linked Data - NCBI & NCI
dbSNP:
1024905
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.4408974G>C , CM000674.2:g.4408974G>C
GRCh38
NC_000012.11:g.4518140G>C , CM000674.1:g.4518140G>C
GRCh37
NC_000012.10:g.4388401G>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'