ClinGen Allele Registry
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Canonical Allele Identifier:
CA299953271
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr18:g.49464790A>T
GRCh37
chr18:g.46991160A>T
Linked Data - Sequence & Population
gnomAD v3:
18:49464790 A / T
gnomAD v4:
chr18-49464790-A-T
Joint Max Group AF
0.0108385 (SAS)
Genomes Max Group AF
0.0108385 (SAS)
Linked Data - NCBI & NCI
dbSNP:
8099594
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.49464790A>T , CM000680.2:g.49464790A>T
GRCh38
NC_000018.9:g.46991160A>T , CM000680.1:g.46991160A>T
GRCh37
NC_000018.8:g.45245158A>T
NCBI36
NG_009239.1:g.920T>A
NG_009239.2:g.944T>A
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