ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA14890563
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr21:g.26914271G>T
GRCh37
chr21:g.28286590G>T
Linked Data - Sequence & Population
gnomAD v2:
21:28286590 G / T
gnomAD v3:
21:26914271 G / T
gnomAD v4:
chr21-26914271-G-T
Joint Max Group AF
0.51887098 (EAS)
Genomes Max Group AF
0.51887098 (EAS)
Linked Data - NCBI & NCI
dbSNP:
467691
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000021.9:g.26914271G>T , CM000683.2:g.26914271G>T
GRCh38
NC_000021.8:g.28286590G>T , CM000683.1:g.28286590G>T
GRCh37
NC_000021.7:g.27208461G>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_937633.1:n.515+24827G>T
Search 100 bp 5'
Search 100 bp 3'