Canonical Allele Identifier: CA847153657
Gene: POU5F1B HGNC NCBI
CCAT2 HGNC NCBI
CASC8 HGNC NCBI

Linked Data

dbSNP Id: rs1317245779
MyVariant Identifiers: chr8:g.128413280G>C (hg19) chr8:g.127401035G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.127401035G>C , CM000670.2:g.127401035G>C GRCh38
NC_000008.10:g.128413280G>C , CM000670.1:g.128413280G>C GRCh37
NC_000008.9:g.128482462G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000645438.1:c.-559-13853G>C (POU5F1B) ENSP00000495779.1:n.-559-13853G>C
NR_109834.1:n.637G>C (CCAT2)
NR_117100.1:n.1176+19794C>G (CASC8)
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