ClinGen Allele Registry
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Canonical Allele Identifier:
CA301505477
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr18:g.60174356T>A
GRCh37
chr18:g.57841589T>A
Linked Data - Sequence & Population
gnomAD v2:
18:57841589 T / A
gnomAD v3:
18:60174356 T / A
gnomAD v4:
chr18-60174356-T-A
Joint Max Group AF
0.74699069 (AFR)
Genomes Max Group AF
0.74699069 (AFR)
Linked Data - NCBI & NCI
dbSNP:
591166
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.60174356T>A , CM000680.2:g.60174356T>A
GRCh38
NC_000018.9:g.57841589T>A , CM000680.1:g.57841589T>A
GRCh37
NC_000018.8:g.55992569T>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_935552.1:n.317-808A>T
Search 100 bp 5'
Search 100 bp 3'