ClinGen Allele Registry
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Canonical Allele Identifier:
CA315632183
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr20:g.46007279G>A
GRCh37
chr20:g.44635918G>A
Linked Data - Sequence & Population
gnomAD v3:
20:46007279 G / A
gnomAD v4:
chr20-46007279-G-A
Joint Max Group AF
0.00002265 (AMR)
Genomes Max Group AF
0.00002265 (AMR)
Linked Data - NCBI & NCI
dbSNP:
945160770
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.46007279G>A , CM000682.2:g.46007279G>A
GRCh38
NC_000020.10:g.44635918G>A , CM000682.1:g.44635918G>A
GRCh37
NC_000020.9:g.44069325G>A
NCBI36
NG_011468.1:g.3372G>A
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