ClinGen Allele Registry
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Canonical Allele Identifier:
CA105250894
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr4:g.122760001C>A
GRCh37
chr4:g.123681156C>A
Linked Data - Sequence & Population
gnomAD v2:
4:123681156 C / A
gnomAD v3:
4:122760001 C / A
gnomAD v4:
chr4-122760001-C-A
Joint Max Group AF
0.92661875 (EAS)
Genomes Max Group AF
0.92661875 (EAS)
Linked Data - NCBI & NCI
dbSNP:
309375
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.122760001C>A , CM000666.2:g.122760001C>A
GRCh38
NC_000004.11:g.123681156C>A , CM000666.1:g.123681156C>A
GRCh37
NC_000004.10:g.123900606C>A
NCBI36
Search 100 bp 5'
Search 100 bp 3'