ClinGen Allele Registry
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Canonical Allele Identifier:
CA559268924
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr5:g.40401387C>G
GRCh37
chr5:g.40401489C>G
Linked Data - Sequence & Population
gnomAD v2:
5:40401489 C / G
gnomAD v3:
5:40401387 C / G
gnomAD v4:
chr5-40401387-C-G
Joint Max Group AF
0.0000192 (AFR)
Genomes Max Group AF
0.0000192 (AFR)
Linked Data - NCBI & NCI
dbSNP:
1248425134
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.40401387C>G , CM000667.2:g.40401387C>G
GRCh38
NC_000005.9:g.40401489C>G , CM000667.1:g.40401489C>G
GRCh37
NC_000005.8:g.40437246C>G
NCBI36
Search 100 bp 5'
Search 100 bp 3'