ClinGen Allele Registry
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Canonical Allele Identifier:
CA230077641
Gene:
Linked Data
dbSNP Id:
rs886800051
gnomAD v2:
11-116313525-C-G
MyVariant Identifiers:
chr11:g.116313525C>G (hg19)
chr11:g.116442808C>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.116442808C>G , CM000673.2:g.116442808C>G
GRCh38
NC_000011.9:g.116313525C>G , CM000673.1:g.116313525C>G
GRCh37
NC_000011.8:g.115818735C>G
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_001748403.1:n.349+31069G>C
Search 100 bp 5'
Search 100 bp 3'