ClinGen Allele Registry
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Canonical Allele Identifier:
CA14879267
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr21:g.34615146G>A
GRCh37
chr21:g.35987445G>A
Linked Data - Sequence & Population
gnomAD v2:
21:35987445 G / A
gnomAD v3:
21:34615146 G / A
gnomAD v4:
chr21-34615146-G-A
Joint Max Group AF
0.14789326 (EAS)
Genomes Max Group AF
0.14870399 (EAS)
Exomes Max Group AF
0.13914384 (EAS)
Linked Data - NCBI & NCI
dbSNP:
149048873
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000021.9:g.34615146G>A , CM000683.2:g.34615146G>A
GRCh38
NC_000021.8:g.35987445G>A , CM000683.1:g.35987445G>A
GRCh37
NC_000021.7:g.34909315G>A
NCBI36
NG_007071.1:g.4938C>T
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