ClinGen Allele Registry
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Canonical Allele Identifier:
CA10750071
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr1:g.207321071T>C
GRCh37
chr1:g.207494416T>C
Linked Data - Sequence & Population
gnomAD v2:
1:207494416 T / C
gnomAD v3:
1:207321071 T / C
gnomAD v4:
chr1-207321071-T-C
Joint Max Group AF
0.92806554 (AFR)
Genomes Max Group AF
0.92806554 (AFR)
Linked Data - NCBI & NCI
dbSNP:
2564978
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.207321071T>C , CM000663.2:g.207321071T>C
GRCh38
NC_000001.10:g.207494416T>C , CM000663.1:g.207494416T>C
GRCh37
NC_000001.9:g.205561039T>C
NCBI36
NG_007465.1:g.4600T>C , LRG_127:g.4600T>C
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