ClinGen Allele Registry
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Canonical Allele Identifier:
CA112972950
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr5:g.1446912C>A
GRCh37
chr5:g.1447027C>A
Linked Data - Sequence & Population
gnomAD v2:
5:1447027 C / A
gnomAD v3:
5:1446912 C / A
gnomAD v4:
chr5-1446912-C-A
Joint Max Group AF
0.06768883 (MID)
Genomes Max Group AF
0.06422028 (NFE)
Linked Data - NCBI & NCI
dbSNP:
6413429
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.1446912C>A , CM000667.2:g.1446912C>A
GRCh38
NC_000005.9:g.1447027C>A , CM000667.1:g.1447027C>A
GRCh37
NC_000005.8:g.1500027C>A
NCBI36
NG_015885.1:g.3517G>T
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