ClinGen Allele Registry
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Canonical Allele Identifier:
CA12538161
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr7:g.46713893C>A
GRCh37
chr7:g.46753491C>A
Linked Data - Sequence & Population
gnomAD v2:
7:46753491 C / A
gnomAD v3:
7:46713893 C / A
gnomAD v4:
chr7-46713893-C-A
Joint Max Group AF
0.83251058 (EAS)
Genomes Max Group AF
0.83251058 (EAS)
Linked Data - NCBI & NCI
dbSNP:
700750
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.46713893C>A , CM000669.2:g.46713893C>A
GRCh38
NC_000007.13:g.46753491C>A , CM000669.1:g.46753491C>A
GRCh37
NC_000007.12:g.46720016C>A
NCBI36
Search 100 bp 5'
Search 100 bp 3'