ClinGen Allele Registry
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Canonical Allele Identifier:
CA185690293
Gene:
Linked Data
dbSNP Id:
rs549675368
gnomAD v2:
8-128024714-C-T
gnomAD v3:
8-127012469-C-T
gnomAD v4:
8-127012469-C-T
MyVariant Identifiers:
chr8:g.128024714C>T (hg19)
chr8:g.127012469C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.127012469C>T , CM000670.2:g.127012469C>T
GRCh38
NC_000008.10:g.128024714C>T , CM000670.1:g.128024714C>T
GRCh37
NC_000008.9:g.128093896C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001746076.2:n.1364+5851C>T
Search 100 bp 5'
Search 100 bp 3'