ClinGen Allele Registry
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Canonical Allele Identifier:
CA85556463
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr3:g.148697100T>A
GRCh37
chr3:g.148414887T>A
Linked Data - Sequence & Population
gnomAD v2:
3:148414887 T / A
gnomAD v3:
3:148697100 T / A
gnomAD v4:
chr3-148697100-T-A
Joint Max Group AF
0.27151929 (AFR)
Genomes Max Group AF
0.27151929 (AFR)
Linked Data - NCBI & NCI
dbSNP:
275651
2125149304
2125149307
2125149315
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.148697100T>A , CM000665.2:g.148697100T>A
GRCh38
NC_000003.11:g.148414887T>A , CM000665.1:g.148414887T>A
GRCh37
NC_000003.10:g.149897577T>A
NCBI36
NG_008468.1:g.4230T>A
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