ClinGen Allele Registry
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Canonical Allele Identifier:
CA14891195
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr21:g.30843934G>A
GRCh37
chr21:g.32216253G>A
Linked Data - Sequence & Population
gnomAD v2:
21:32216253 G / A
gnomAD v3:
21:30843934 G / A
gnomAD v4:
chr21-30843934-G-A
Joint Max Group AF
0.67648686 (AFR)
Genomes Max Group AF
0.67648686 (AFR)
Linked Data - NCBI & NCI
dbSNP:
7283316
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000021.9:g.30843934G>A , CM000683.2:g.30843934G>A
GRCh38
NC_000021.8:g.32216253G>A , CM000683.1:g.32216253G>A
GRCh37
NC_000021.7:g.31138124G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_937660.1:n.566-37670C>T
Search 100 bp 5'
Search 100 bp 3'