ClinGen Allele Registry
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Canonical Allele Identifier:
CA185688695
Gene:
Linked Data
dbSNP Id:
rs540692517
gnomAD v2:
8-128011925-C-A
gnomAD v3:
8-126999680-C-A
gnomAD v4:
8-126999680-C-A
MyVariant Identifiers:
chr8:g.128011925C>A (hg19)
chr8:g.126999680C>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.126999680C>A , CM000670.2:g.126999680C>A
GRCh38
NC_000008.10:g.128011925C>A , CM000670.1:g.128011925C>A
GRCh37
NC_000008.9:g.128081107C>A
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_001746076.2:n.1301-6875C>A
Search 100 bp 5'
Search 100 bp 3'