Canonical Allele Identifier: CA1818352130
Gene: POU5F1B HGNC NCBI
CCAT2 HGNC NCBI
CASC8 HGNC NCBI

Linked Data

dbSNP Id: rs1814931354
gnomAD v4: 8-127400953-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.127400953C>A , CM000670.2:g.127400953C>A GRCh38
NC_000008.10:g.128413198C>A , CM000670.1:g.128413198C>A GRCh37
NC_000008.9:g.128482380C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000645438.1:c.-559-13935C>A (POU5F1B) ENSP00000495779.1:n.-559-13935C>A
NR_109834.1:n.555C>A (CCAT2)
NR_117100.1:n.1176+19876G>T (CASC8)
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