ClinGen Allele Registry
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Canonical Allele Identifier:
CA173689902
Gene:
Linked Data
dbSNP Id:
rs1055503492
gnomAD v2:
8-20592486-C-T
gnomAD v3:
8-20734975-C-T
gnomAD v4:
8-20734975-C-T
MyVariant Identifiers:
chr8:g.20592486C>T (hg19)
chr8:g.20734975C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.20734975C>T , CM000670.2:g.20734975C>T
GRCh38
NC_000008.10:g.20592486C>T , CM000670.1:g.20592486C>T
GRCh37
NC_000008.9:g.20636766C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_949569.3:n.72-55471C>T
Search 100 bp 5'
Search 100 bp 3'