ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA108412948
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr4:g.147691337C>T
GRCh37
chr4:g.148612488C>T
Linked Data - Sequence & Population
gnomAD v2:
4:148612488 C / T
gnomAD v3:
4:147691337 C / T
gnomAD v4:
chr4-147691337-C-T
Joint Max Group AF
0.08835149 (EAS)
Genomes Max Group AF
0.08835149 (EAS)
Linked Data - NCBI & NCI
dbSNP:
11731298
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.147691337C>T , CM000666.2:g.147691337C>T
GRCh38
NC_000004.11:g.148612488C>T , CM000666.1:g.148612488C>T
GRCh37
NC_000004.10:g.148831938C>T
NCBI36
Search 100 bp 5'
Search 100 bp 3'