ClinGen Allele Registry
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Canonical Allele Identifier:
CA14419360
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr17:g.28274107T>G
GRCh37
chr17:g.26601133T>G
Linked Data - Sequence & Population
gnomAD v2:
17:26601133 T / G
gnomAD v3:
17:28274107 T / G
gnomAD v4:
chr17-28274107-T-G
Joint Max Group AF
0.32566674 (SAS)
Genomes Max Group AF
0.32566674 (SAS)
Linked Data - NCBI & NCI
dbSNP:
2006933
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.28274107T>G , CM000679.2:g.28274107T>G
GRCh38
NC_000017.10:g.26601133T>G , CM000679.1:g.26601133T>G
GRCh37
NC_000017.9:g.23625260T>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_934642.1:n.815+981A>C
Search 100 bp 5'
Search 100 bp 3'