ClinGen Allele Registry
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Canonical Allele Identifier:
CA12020458
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr5:g.8055148T>C
GRCh37
chr5:g.8055261T>C
Linked Data - Sequence & Population
gnomAD v2:
5:8055261 T / C
gnomAD v3:
5:8055148 T / C
gnomAD v4:
chr5-8055148-T-C
Joint Max Group AF
0.26734028 (AFR)
Genomes Max Group AF
0.26734028 (AFR)
Linked Data - NCBI & NCI
dbSNP:
2924471
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.8055148T>C , CM000667.2:g.8055148T>C
GRCh38
NC_000005.9:g.8055261T>C , CM000667.1:g.8055261T>C
GRCh37
NC_000005.8:g.8108261T>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'