ClinGen Allele Registry
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Canonical Allele Identifier:
CA552525616
Gene:
Linked Data - Expert Curation
COSMIC:
COSN1300955
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr4:g.73998833G>T
GRCh37
chr4:g.74864550G>T
Linked Data - Sequence & Population
gnomAD v2:
4:74864550 G / T
gnomAD v3:
4:73998833 G / T
gnomAD v4:
chr4-73998833-G-T
Joint Max Group AF
0.00002588 (AFR)
Genomes Max Group AF
0.00001922 (AFR)
Exomes Max Group AF
0.00000136 (NFE)
Linked Data - NCBI & NCI
dbSNP:
352046
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.73998833G>T , CM000666.2:g.73998833G>T
GRCh38
NC_000004.11:g.74864550G>T , CM000666.1:g.74864550G>T
GRCh37
NC_000004.10:g.75083414G>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_938874.1:n.61G>T
Search 100 bp 5'
Search 100 bp 3'