ClinGen Allele Registry
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Canonical Allele Identifier:
CA14624021
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr18:g.41477761G>C
GRCh37
chr18:g.39057725G>C
Linked Data - Sequence & Population
gnomAD v2:
18:39057725 G / C
gnomAD v3:
18:41477761 G / C
gnomAD v4:
chr18-41477761-G-C
Joint Max Group AF
0.58581014 (EAS)
Genomes Max Group AF
0.58581014 (EAS)
Linked Data - NCBI & NCI
dbSNP:
2848745
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.41477761G>C , CM000680.2:g.41477761G>C
GRCh38
NC_000018.9:g.39057725G>C , CM000680.1:g.39057725G>C
GRCh37
NC_000018.8:g.37311723G>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_935409.1:n.86-26373G>C
Search 100 bp 5'
Search 100 bp 3'