ClinGen Allele Registry
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Canonical Allele Identifier:
CA101676654
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr4:g.99353130G>C
GRCh37
chr4:g.100274287G>C
Linked Data - Sequence & Population
gnomAD v3:
4:99353130 G / C
gnomAD v4:
chr4-99353130-G-C
Joint Max Group AF
0.0003302 (SAS)
Genomes Max Group AF
0.00016898 (SAS)
Exomes Max Group AF
0.00030965 (SAS)
Linked Data - NCBI & NCI
dbSNP:
554717562
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.99353130G>C , CM000666.2:g.99353130G>C
GRCh38
NC_000004.11:g.100274287G>C , CM000666.1:g.100274287G>C
GRCh37
NC_000004.10:g.100493310G>C
NCBI36
NG_011718.1:g.4631C>G
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