ClinGen Allele Registry
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Canonical Allele Identifier:
CA113505986
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr5:g.4196425T>C
GRCh37
chr5:g.4196538T>C
Linked Data - Sequence & Population
gnomAD v2:
5:4196538 T / C
gnomAD v3:
5:4196425 T / C
gnomAD v4:
chr5-4196425-T-C
Joint Max Group AF
0.00009538 (AFR)
Genomes Max Group AF
0.00009538 (AFR)
Linked Data - NCBI & NCI
dbSNP:
560923789
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.4196425T>C , CM000667.2:g.4196425T>C
GRCh38
NC_000005.9:g.4196538T>C , CM000667.1:g.4196538T>C
GRCh37
NC_000005.8:g.4249538T>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'