ClinGen Allele Registry
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Canonical Allele Identifier:
CA105893658
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr4:g.127420965T>C
GRCh37
chr4:g.128342120T>C
Linked Data - Sequence & Population
gnomAD v2:
4:128342120 T / C
gnomAD v3:
4:127420965 T / C
gnomAD v4:
chr4-127420965-T-C
Joint Max Group AF
0.67160226 (AFR)
Genomes Max Group AF
0.67160226 (AFR)
Linked Data - NCBI & NCI
dbSNP:
724950
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.127420965T>C , CM000666.2:g.127420965T>C
GRCh38
NC_000004.11:g.128342120T>C , CM000666.1:g.128342120T>C
GRCh37
NC_000004.10:g.128561570T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001741824.2:n.109-5803A>G
Search 100 bp 5'
Search 100 bp 3'