ClinGen Allele Registry
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Canonical Allele Identifier:
CA12595502
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr7:g.106732457G>A
GRCh37
chr7:g.106372903G>A
Linked Data - Sequence & Population
gnomAD v2:
7:106372903 G / A
gnomAD v3:
7:106732457 G / A
gnomAD v4:
chr7-106732457-G-A
Joint Max Group AF
0.44861229 (NFE)
Genomes Max Group AF
0.44863255 (NFE)
Exomes Max Group AF
0.113859 (NFE)
Linked Data - NCBI & NCI
dbSNP:
342296
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.106732457G>A , CM000669.2:g.106732457G>A
GRCh38
NC_000007.13:g.106372903G>A , CM000669.1:g.106372903G>A
GRCh37
NC_000007.12:g.106160139G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001745317.1:n.4C>T
Search 100 bp 5'
Search 100 bp 3'