ClinGen Allele Registry
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Canonical Allele Identifier:
CA11738244
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr4:g.164987569A>G
GRCh37
chr4:g.165908721A>G
Linked Data - Sequence & Population
gnomAD v2:
4:165908721 A / G
gnomAD v3:
4:164987569 A / G
gnomAD v4:
chr4-164987569-A-G
Joint Max Group AF
0.69718839 (EAS)
Genomes Max Group AF
0.69719431 (EAS)
Exomes Max Group AF
0.48673611 (EAS)
Linked Data - NCBI & NCI
dbSNP:
4691139
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.164987569A>G , CM000666.2:g.164987569A>G
GRCh38
NC_000004.11:g.165908721A>G , CM000666.1:g.165908721A>G
GRCh37
NC_000004.10:g.166128171A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000510050.1:n.305A>G
Search 100 bp 5'
Search 100 bp 3'