ClinGen Allele Registry
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Canonical Allele Identifier:
CA12755378
Gene:
Linked Data
dbSNP Id:
rs17128007
gnomAD v2:
8-19083152-C-T
gnomAD v3:
8-19225642-C-T
gnomAD v4:
8-19225642-C-T
MyVariant Identifiers:
chr8:g.19083152C>T (hg19)
chr8:g.19225642C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.19225642C>T , CM000670.2:g.19225642C>T
GRCh38
NC_000008.10:g.19083152C>T , CM000670.1:g.19083152C>T
GRCh37
NC_000008.9:g.19127432C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid change
NR_038919.1:n.568+1526G>A
Search 100 bp 5'
Search 100 bp 3'