Canonical Allele Identifier: CA585068470
Gene: POU5F1B HGNC NCBI
CCAT2 HGNC NCBI
CASC8 HGNC NCBI

Linked Data

dbSNP Id: rs1473840802
gnomAD v2: 8-128413201-C-G
gnomAD v3: 8-127400956-C-G
gnomAD v4: 8-127400956-C-G
MyVariant Identifiers: chr8:g.128413201C>G (hg19) chr8:g.127400956C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.127400956C>G , CM000670.2:g.127400956C>G GRCh38
NC_000008.10:g.128413201C>G , CM000670.1:g.128413201C>G GRCh37
NC_000008.9:g.128482383C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000645438.1:c.-559-13932C>G (POU5F1B) ENSP00000495779.1:n.-559-13932C>G
NR_109834.1:n.558C>G (CCAT2)
NR_117100.1:n.1176+19873G>C (CASC8)
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