ClinGen Allele Registry
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Canonical Allele Identifier:
CA14689409
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr19:g.40285576C>G
GRCh37
chr19:g.40791483C>G
Linked Data - Sequence & Population
gnomAD v2:
19:40791483 C / G
gnomAD v3:
19:40285576 C / G
gnomAD v4:
chr19-40285576-C-G
Joint Max Group AF
0.36287317 (AFR)
Genomes Max Group AF
0.362439 (AFR)
Exomes Max Group AF
0.35561312 (AFR)
Linked Data - NCBI & NCI
dbSNP:
10416620
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.40285576C>G , CM000681.2:g.40285576C>G
GRCh38
NC_000019.9:g.40791483C>G , CM000681.1:g.40791483C>G
GRCh37
NC_000019.8:g.45483323C>G
NCBI36
NG_012038.2:g.4783G>C
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