ClinGen Allele Registry
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Canonical Allele Identifier:
CA15990637
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr21:g.15542586G>A
GRCh37
chr21:g.16914905G>A
Linked Data - Sequence & Population
gnomAD v2:
21:16914905 G / A
gnomAD v3:
21:15542586 G / A
gnomAD v4:
chr21-15542586-G-A
Joint Max Group AF
0.7016156 (AFR)
Genomes Max Group AF
0.7016156 (AFR)
Linked Data - NCBI & NCI
dbSNP:
2823357
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000021.9:g.15542586G>A , CM000683.2:g.15542586G>A
GRCh38
NC_000021.8:g.16914905G>A , CM000683.1:g.16914905G>A
GRCh37
NC_000021.7:g.15836776G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001754972.1:n.403-15863C>T
Search 100 bp 5'
Search 100 bp 3'