ClinGen Allele Registry
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Canonical Allele Identifier:
CA12364901
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr6:g.7258384C>T
GRCh37
chr6:g.7258617C>T
Linked Data - Sequence & Population
gnomAD v2:
6:7258617 C / T
gnomAD v3:
6:7258384 C / T
gnomAD v4:
chr6-7258384-C-T
Joint Max Group AF
0.57665726 (AFR)
Genomes Max Group AF
0.57665726 (AFR)
Linked Data - NCBI & NCI
dbSNP:
9502570
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.7258384C>T , CM000668.2:g.7258384C>T
GRCh38
NC_000006.11:g.7258617C>T , CM000668.1:g.7258617C>T
GRCh37
NC_000006.10:g.7203616C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_926433.1:n.219-2061C>T
Search 100 bp 5'
Search 100 bp 3'