ClinGen Allele Registry
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Canonical Allele Identifier:
CA14947000
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr22:g.50271920G>A
GRCh37
chr22:g.50710349G>A
Linked Data - Sequence & Population
gnomAD v2:
22:50710349 G / A
gnomAD v3:
22:50271920 G / A
gnomAD v4:
chr22-50271920-G-A
Joint Max Group AF
0.56802209 (EAS)
Genomes Max Group AF
0.56802209 (EAS)
Linked Data - NCBI & NCI
dbSNP:
2235356
2149021502
2149021505
2149021507
2149021510
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000022.11:g.50271920G>A , CM000684.2:g.50271920G>A
GRCh38
NC_000022.10:g.50710349G>A , CM000684.1:g.50710349G>A
GRCh37
NC_000022.9:g.49052476G>A
NCBI36
NG_034042.1:g.3474C>T
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