ClinGen Allele Registry
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Canonical Allele Identifier:
CA14242879
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr16:g.20331250T>A
GRCh37
chr16:g.20342572T>A
Linked Data - Sequence & Population
gnomAD v2:
16:20342572 T / A
gnomAD v3:
16:20331250 T / A
gnomAD v4:
chr16-20331250-T-A
Joint Max Group AF
0.29897423 (NFE)
Genomes Max Group AF
0.29897423 (NFE)
Linked Data - NCBI & NCI
dbSNP:
12444268
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.20331250T>A , CM000678.2:g.20331250T>A
GRCh38
NC_000016.9:g.20342572T>A , CM000678.1:g.20342572T>A
GRCh37
NC_000016.8:g.20250073T>A
NCBI36
NG_008151.1:g.26466A>T
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