ClinGen Allele Registry
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Canonical Allele Identifier:
CA13793817
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr13:g.80118676G>A
GRCh37
chr13:g.80692811G>A
Linked Data - Sequence & Population
gnomAD v2:
13:80692811 G / A
gnomAD v3:
13:80118676 G / A
gnomAD v4:
chr13-80118676-G-A
Joint Max Group AF
0.49413916 (NFE)
Genomes Max Group AF
0.49413916 (NFE)
Linked Data - NCBI & NCI
dbSNP:
8001641
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.80118676G>A , CM000675.2:g.80118676G>A
GRCh38
NC_000013.10:g.80692811G>A , CM000675.1:g.80692811G>A
GRCh37
NC_000013.9:g.79590812G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_942116.2:n.379C>T
Search 100 bp 5'
Search 100 bp 3'