Allele Registry

WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.

Canonical Allele Identifier: CA847153620

Gene: POU5F1B HGNC NCBI
CCAT2 HGNC NCBI
CASC8 HGNC NCBI

Linked Data

dbSNP Id: rs1215159223

gnomAD v3: 8-127400922-C-A

gnomAD v4: 8-127400922-C-A

MyVariant Identifiers: chr8:g.128413167C>A (hg19) chr8:g.127400922C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.127400922C>A , CM000670.2:g.127400922C>A	GRCh38
NC_000008.10:g.128413167C>A , CM000670.1:g.128413167C>A	GRCh37
NC_000008.9:g.128482349C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000645438.1:c.-559-13966C>A (POU5F1B)	ENSP00000495779.1:n.-559-13966C>A
NR_109834.1:n.524C>A (CCAT2)
NR_117100.1:n.1176+19907G>T (CASC8)

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