ClinGen Allele Registry
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Canonical Allele Identifier:
CA12738959
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr8:g.125495147C>A
GRCh37
chr8:g.126507389C>A
Linked Data - Sequence & Population
gnomAD v2:
8:126507389 C / A
gnomAD v3:
8:125495147 C / A
gnomAD v4:
chr8-125495147-C-A
Joint Max Group AF
0.88978542 (AFR)
Genomes Max Group AF
0.88978542 (AFR)
Linked Data - NCBI & NCI
dbSNP:
2954038
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.125495147C>A , CM000670.2:g.125495147C>A
GRCh38
NC_000008.10:g.126507389C>A , CM000670.1:g.126507389C>A
GRCh37
NC_000008.9:g.126576571C>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_928628.1:n.256+21833C>A
Search 100 bp 5'
Search 100 bp 3'