ClinGen Allele Registry
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Canonical Allele Identifier:
CA13153189
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr10:g.44390758C>T
GRCh37
chr10:g.44886206C>T
Linked Data - Sequence & Population
gnomAD v2:
10:44886206 C / T
gnomAD v3:
10:44390758 C / T
gnomAD v4:
chr10-44390758-C-T
Joint Max Group AF
0.41140662 (AMR)
Genomes Max Group AF
0.41140662 (AMR)
Linked Data - NCBI & NCI
dbSNP:
754618
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.44390758C>T , CM000672.2:g.44390758C>T
GRCh38
NC_000010.10:g.44886206C>T , CM000672.1:g.44886206C>T
GRCh37
NC_000010.9:g.44206212C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001747298.1:n.67+926C>T
Search 100 bp 5'
Search 100 bp 3'