ClinGen Allele Registry
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Canonical Allele Identifier:
CA220467174
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr11:g.35071523A>G
GRCh37
chr11:g.35093070A>G
Linked Data - Sequence & Population
gnomAD v2:
11:35093070 A / G
gnomAD v3:
11:35071523 A / G
gnomAD v4:
chr11-35071523-A-G
Joint Max Group AF
0.73308848 (EAS)
Genomes Max Group AF
0.73308848 (EAS)
Linked Data - NCBI & NCI
dbSNP:
2785197
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.35071523A>G , CM000673.2:g.35071523A>G
GRCh38
NC_000011.9:g.35093070A>G , CM000673.1:g.35093070A>G
GRCh37
NC_000011.8:g.35049646A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001748182.1:n.41+2394T>C
Search 100 bp 5'
Search 100 bp 3'