ClinGen Allele Registry
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Canonical Allele Identifier:
CA96322299
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr4:g.43050169A>C
GRCh37
chr4:g.43052186A>C
Linked Data - Sequence & Population
gnomAD v2:
4:43052186 A / C
gnomAD v3:
4:43050169 A / C
gnomAD v4:
chr4-43050169-A-C
Joint Max Group AF
0.12991767 (AFR)
Genomes Max Group AF
0.12991767 (AFR)
Linked Data - NCBI & NCI
dbSNP:
9997524
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.43050169A>C , CM000666.2:g.43050169A>C
GRCh38
NC_000004.11:g.43052186A>C , CM000666.1:g.43052186A>C
GRCh37
NC_000004.10:g.42746943A>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'