ClinGen Allele Registry
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Canonical Allele Identifier:
CA15344097
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr4:g.74554070A>G
GRCh37
chr4:g.75419787A>G
Linked Data - Sequence & Population
gnomAD v2:
4:75419787 A / G
gnomAD v3:
4:74554070 A / G
gnomAD v4:
chr4-74554070-A-G
Joint Max Group AF
0.3284438 (SAS)
Genomes Max Group AF
0.3284438 (SAS)
Linked Data - NCBI & NCI
dbSNP:
10034692
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.74554070A>G , CM000666.2:g.74554070A>G
GRCh38
NC_000004.11:g.75419787A>G , CM000666.1:g.75419787A>G
GRCh37
Transcript Alleles
HGVS
Amino-acid Change
XR_001741513.1:n.167-1238T>C
Search 100 bp 5'
Search 100 bp 3'