Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: CA847153603

Gene: POU5F1B HGNC NCBI
CCAT2 HGNC NCBI
CASC8 HGNC NCBI

Linked Data

dbSNP Id: rs1395530946

gnomAD v3: 8-127400881-C-G

gnomAD v4: 8-127400881-C-G

MyVariant Identifiers: chr8:g.128413126C>G (hg19) chr8:g.127400881C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.127400881C>G , CM000670.2:g.127400881C>G	GRCh38
NC_000008.10:g.128413126C>G , CM000670.1:g.128413126C>G	GRCh37
NC_000008.9:g.128482308C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000645438.1:c.-559-14007C>G (POU5F1B)	ENSP00000495779.1:n.-559-14007C>G
NR_109834.1:n.483C>G (CCAT2)
NR_117100.1:n.1176+19948G>C (CASC8)

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