ClinGen Allele Registry
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Canonical Allele Identifier:
CA22000524
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr1:g.46942278T>C
GRCh37
chr1:g.47407950T>C
Linked Data - Sequence & Population
gnomAD v2:
1:47407950 T / C
gnomAD v3:
1:46942278 T / C
gnomAD v4:
chr1-46942278-T-C
Joint Max Group AF
0.18507082 (EAS)
Genomes Max Group AF
0.18507082 (EAS)
Linked Data - NCBI & NCI
dbSNP:
9332978
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.46942278T>C , CM000663.2:g.46942278T>C
GRCh38
NC_000001.10:g.47407950T>C , CM000663.1:g.47407950T>C
GRCh37
NC_000001.9:g.47180537T>C
NCBI36
NG_007932.1:g.4207A>G
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