ClinGen Allele Registry
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Canonical Allele Identifier:
CA299953270
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr18:g.49464790A>C
GRCh37
chr18:g.46991160A>C
Linked Data - Sequence & Population
gnomAD v2:
18:46991160 A / C
gnomAD v3:
18:49464790 A / C
gnomAD v4:
chr18-49464790-A-C
Joint Max Group AF
0.00960914 (EAS)
Genomes Max Group AF
0.00960914 (EAS)
Linked Data - NCBI & NCI
dbSNP:
8099594
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.49464790A>C , CM000680.2:g.49464790A>C
GRCh38
NC_000018.9:g.46991160A>C , CM000680.1:g.46991160A>C
GRCh37
NC_000018.8:g.45245158A>C
NCBI36
NG_009239.1:g.920T>G
NG_009239.2:g.944T>G
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