ClinGen Allele Registry
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Canonical Allele Identifier:
CA12978656
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr9:g.4389941G>C
GRCh37
chr9:g.4389941G>C
Linked Data - Sequence & Population
gnomAD v2:
9:4389941 G / C
gnomAD v3:
9:4389941 G / C
gnomAD v4:
chr9-4389941-G-C
Joint Max Group AF
0.34862842 (EAS)
Genomes Max Group AF
0.34862842 (EAS)
Linked Data - NCBI & NCI
dbSNP:
3933331
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.4389941G>C , CM000671.2:g.4389941G>C
GRCh38
NC_000009.11:g.4389941G>C , CM000671.1:g.4389941G>C
GRCh37
NC_000009.10:g.4379941G>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_929447.1:n.192+41468C>G
Search 100 bp 5'
Search 100 bp 3'