ClinGen Allele Registry
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Canonical Allele Identifier:
CA16301326
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr7:g.54607180T>C
GRCh37
chr7:g.54674873T>C
Linked Data - Sequence & Population
gnomAD v2:
7:54674873 T / C
gnomAD v3:
7:54607180 T / C
gnomAD v4:
chr7-54607180-T-C
Joint Max Group AF
0.94172268 (NFE)
Genomes Max Group AF
0.94172268 (NFE)
Linked Data - NCBI & NCI
dbSNP:
679830
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.54607180T>C , CM000669.2:g.54607180T>C
GRCh38
NC_000007.13:g.54674873T>C , CM000669.1:g.54674873T>C
GRCh37
NC_000007.12:g.54642367T>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'