ClinGen Allele Registry
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Canonical Allele Identifier:
CA11690965
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr4:g.73998833G>C
GRCh37
chr4:g.74864550G>C
Linked Data - Sequence & Population
gnomAD v2:
4:74864550 G / C
gnomAD v3:
4:73998833 G / C
gnomAD v4:
chr4-73998833-G-C
Joint Max Group AF
0.96699515 (EAS)
Genomes Max Group AF
0.94590506 (EAS)
Exomes Max Group AF
0.96762631 (EAS)
Linked Data - NCBI & NCI
dbSNP:
352046
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.73998833G>C , CM000666.2:g.73998833G>C
GRCh38
NC_000004.11:g.74864550G>C , CM000666.1:g.74864550G>C
GRCh37
NC_000004.10:g.75083414G>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_938874.1:n.61G>C
Search 100 bp 5'
Search 100 bp 3'