ClinGen Allele Registry
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Canonical Allele Identifier:
CA11999599
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr5:g.40414965C>T
GRCh37
chr5:g.40415067C>T
Linked Data - Sequence & Population
gnomAD v2:
5:40415067 C / T
gnomAD v3:
5:40414965 C / T
gnomAD v4:
chr5-40414965-C-T
Joint Max Group AF
0.60589494 (AFR)
Genomes Max Group AF
0.60589494 (AFR)
Linked Data - NCBI & NCI
dbSNP:
1992660
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.40414965C>T , CM000667.2:g.40414965C>T
GRCh38
NC_000005.9:g.40415067C>T , CM000667.1:g.40415067C>T
GRCh37
NC_000005.8:g.40450824C>T
NCBI36
Search 100 bp 5'
Search 100 bp 3'