ClinGen Allele Registry
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Canonical Allele Identifier:
CA12876765
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr8:g.20768810G>A
GRCh37
chr8:g.20626321G>A
Linked Data - Sequence & Population
gnomAD v2:
8:20626321 G / A
gnomAD v3:
8:20768810 G / A
gnomAD v4:
chr8-20768810-G-A
Joint Max Group AF
0.11004657 (SAS)
Genomes Max Group AF
0.11004657 (SAS)
Linked Data - NCBI & NCI
dbSNP:
2122469
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.20768810G>A , CM000670.2:g.20768810G>A
GRCh38
NC_000008.10:g.20626321G>A , CM000670.1:g.20626321G>A
GRCh37
NC_000008.9:g.20670601G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_949569.3:n.72-21636G>A
Search 100 bp 5'
Search 100 bp 3'