Canonical Allele Identifier: CA1118994136
Gene: POU5F1B HGNC NCBI
CCAT2 HGNC NCBI
CASC8 HGNC NCBI

Linked Data

dbSNP Id: rs1814936400
gnomAD v3: 8-127401339-A-G
gnomAD v4: 8-127401339-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.127401339A>G , CM000670.2:g.127401339A>G GRCh38
NC_000008.10:g.128413584A>G , CM000670.1:g.128413584A>G GRCh37
NC_000008.9:g.128482766A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000645438.1:c.-559-13549A>G (POU5F1B) ENSP00000495779.1:n.-559-13549A>G
NR_109834.1:n.941A>G (CCAT2)
NR_117100.1:n.1176+19490T>C (CASC8)
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