ClinGen Allele Registry
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Canonical Allele Identifier:
CA14422359
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr17:g.50202995G>C
GRCh37
chr17:g.48280356G>C
Linked Data - Sequence & Population
gnomAD v2:
17:48280356 G / C
gnomAD v3:
17:50202995 G / C
gnomAD v4:
chr17-50202995-G-C
Joint Max Group AF
0.36132888 (EAS)
Genomes Max Group AF
0.36132888 (EAS)
Linked Data - NCBI & NCI
dbSNP:
2269336
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.50202995G>C , CM000679.2:g.50202995G>C
GRCh38
NC_000017.10:g.48280356G>C , CM000679.1:g.48280356G>C
GRCh37
NC_000017.9:g.45635355G>C
NCBI36
NG_007400.1:g.3645C>G , LRG_1:g.3645C>G
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