ClinGen Allele Registry
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Canonical Allele Identifier:
CA15704444
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr11:g.92917836C>A
GRCh37
chr11:g.92651002C>A
Linked Data - Sequence & Population
gnomAD v2:
11:92651002 C / A
gnomAD v3:
11:92917836 C / A
gnomAD v4:
chr11-92917836-C-A
Joint Max Group AF
0.11336183 (AFR)
Genomes Max Group AF
0.11336183 (AFR)
Linked Data - NCBI & NCI
dbSNP:
7950811
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.92917836C>A , CM000673.2:g.92917836C>A
GRCh38
NC_000011.9:g.92651002C>A , CM000673.1:g.92651002C>A
GRCh37
NC_000011.8:g.92290650C>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000634657.1:n.81+1872C>A
Search 100 bp 5'
Search 100 bp 3'