ClinGen Allele Registry
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Canonical Allele Identifier:
CA105250888
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr4:g.122759960G>C
GRCh37
chr4:g.123681115G>C
Linked Data - Sequence & Population
gnomAD v3:
4:122759960 G / C
gnomAD v4:
chr4-122759960-G-C
Joint Max Group AF
0.00000803 (AFR)
Genomes Max Group AF
0.00000803 (AFR)
Linked Data - NCBI & NCI
dbSNP:
1024841386
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.122759960G>C , CM000666.2:g.122759960G>C
GRCh38
NC_000004.11:g.123681115G>C , CM000666.1:g.123681115G>C
GRCh37
NC_000004.10:g.123900565G>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'