Canonical Allele Identifier: CA185736853
Gene: POU5F1B HGNC NCBI
CCAT2 HGNC NCBI
CASC8 HGNC NCBI

Linked Data

dbSNP Id: rs528595667
gnomAD v2: 8-128413336-G-A
gnomAD v3: 8-127401091-G-A
gnomAD v4: 8-127401091-G-A
MyVariant Identifiers: chr8:g.128413336G>A (hg19) chr8:g.127401091G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.127401091G>A , CM000670.2:g.127401091G>A GRCh38
NC_000008.10:g.128413336G>A , CM000670.1:g.128413336G>A GRCh37
NC_000008.9:g.128482518G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000645438.1:c.-559-13797G>A (POU5F1B) ENSP00000495779.1:n.-559-13797G>A
NR_109834.1:n.693G>A (CCAT2)
NR_117100.1:n.1176+19738C>T (CASC8)
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