ClinGen Allele Registry
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Canonical Allele Identifier:
CA186666562
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr8:g.134857733A>G
GRCh37
chr8:g.135869976A>G
Linked Data - Sequence & Population
gnomAD v2:
8:135869976 A / G
gnomAD v3:
8:134857733 A / G
gnomAD v4:
chr8-134857733-A-G
Joint Max Group AF
0.8085813 (AFR)
Genomes Max Group AF
0.8085813 (AFR)
Linked Data - NCBI & NCI
dbSNP:
12541063
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.134857733A>G , CM000670.2:g.134857733A>G
GRCh38
NC_000008.10:g.135869976A>G , CM000670.1:g.135869976A>G
GRCh37
NC_000008.9:g.135939158A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_125427.1:n.1696+6103A>G
Search 100 bp 5'
Search 100 bp 3'