ClinGen Allele Registry
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Canonical Allele Identifier:
CA12739312
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr8:g.126912414C>A
GRCh37
chr8:g.127924659C>A
Linked Data - Sequence & Population
gnomAD v2:
8:127924659 C / A
gnomAD v3:
8:126912414 C / A
gnomAD v4:
chr8-126912414-C-A
Joint Max Group AF
0.91546186 (EAS)
Genomes Max Group AF
0.91546186 (EAS)
Linked Data - NCBI & NCI
dbSNP:
12543663
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.126912414C>A , CM000670.2:g.126912414C>A
GRCh38
NC_000008.10:g.127924659C>A , CM000670.1:g.127924659C>A
GRCh37
NC_000008.9:g.127993841C>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001746076.2:n.1300+34624C>A
Search 100 bp 5'
Search 100 bp 3'