ClinGen Allele Registry
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Canonical Allele Identifier:
CA230077640
Gene:
Linked Data
dbSNP Id:
rs11215936
gnomAD v2:
11-116313516-G-A
gnomAD v3:
11-116442799-G-A
gnomAD v4:
11-116442799-G-A
MyVariant Identifiers:
chr11:g.116313516G>A (hg19)
chr11:g.116442799G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.116442799G>A , CM000673.2:g.116442799G>A
GRCh38
NC_000011.9:g.116313516G>A , CM000673.1:g.116313516G>A
GRCh37
NC_000011.8:g.115818726G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_001748403.1:n.349+31078C>T
Search 100 bp 5'
Search 100 bp 3'