ClinGen Allele Registry
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Canonical Allele Identifier:
CA10749867
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr1:g.206117948A>G
GRCh37
chr1:g.206223383T>C
Linked Data - Sequence & Population
gnomAD v2:
1:206223383 T / C
gnomAD v3:
1:206117948 A / G
gnomAD v4:
chr1-206117948-A-G
Joint Max Group AF
0.49439509 (AFR)
Genomes Max Group AF
0.49437055 (AFR)
Exomes Max Group AF
0.2044221 (AFR)
Linked Data - NCBI & NCI
dbSNP:
28536160
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.206117948A>G , CM000663.2:g.206117948A>G
GRCh38
NC_000001.10:g.206223383T>C , CM000663.1:g.206223383T>C
GRCh37
NC_000001.9:g.204390006T>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'