ClinGen Allele Registry
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Canonical Allele Identifier:
CA291552695
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr17:g.50201674G>A
GRCh37
chr17:g.48279035G>A
Linked Data - Sequence & Population
gnomAD v2:
17:48279035 G / A
gnomAD v3:
17:50201674 G / A
gnomAD v4:
chr17-50201674-G-A
Joint Max Group AF
0.06024468 (AFR)
Genomes Max Group AF
0.06147027 (AFR)
Exomes Max Group AF
0.05313704 (AFR)
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000731333
RCV000834549
RCV001517449
ClinVar Variation:
595705
dbSNP:
113647555
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.50201674G>A , CM000679.2:g.50201674G>A
GRCh38
NC_000017.10:g.48279035G>A , CM000679.1:g.48279035G>A
GRCh37
NC_000017.9:g.45634034G>A
NCBI36
NG_007400.1:g.4966C>T , LRG_1:g.4966C>T
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