ClinGen Allele Registry
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Canonical Allele Identifier:
CA101609484
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr4:g.99265219A>G
GRCh37
chr4:g.100186376A>G
Linked Data - Sequence & Population
gnomAD v2:
4:100186376 A / G
gnomAD v3:
4:99265219 A / G
gnomAD v4:
chr4-99265219-A-G
Joint Max Group AF
0.00349865 (AFR)
Genomes Max Group AF
0.00349865 (AFR)
Linked Data - NCBI & NCI
dbSNP:
1230025
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.99265219A>G , CM000666.2:g.99265219A>G
GRCh38
NC_000004.11:g.100186376A>G , CM000666.1:g.100186376A>G
GRCh37
NC_000004.10:g.100405399A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_037884.1:n.3790-21576A>G
Search 100 bp 5'
Search 100 bp 3'