ClinGen Allele Registry
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Canonical Allele Identifier:
CA100084315
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr4:g.74556244A>G
GRCh37
chr4:g.75421961A>G
Linked Data - Sequence & Population
gnomAD v2:
4:75421961 A / G
gnomAD v3:
4:74556244 A / G
gnomAD v4:
chr4-74556244-A-G
Joint Max Group AF
0.96487876 (EAS)
Genomes Max Group AF
0.96487876 (EAS)
Linked Data - NCBI & NCI
dbSNP:
9996584
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.74556244A>G , CM000666.2:g.74556244A>G
GRCh38
NC_000004.11:g.75421961A>G , CM000666.1:g.75421961A>G
GRCh37
Transcript Alleles
HGVS
Amino-acid Change
XR_001741513.1:n.167-3412T>C
Search 100 bp 5'
Search 100 bp 3'