Canonical Allele Identifier: CA1119008297
Gene: POU5F1B HGNC NCBI
CASC21 HGNC NCBI
CASC8 HGNC NCBI

Linked Data

dbSNP Id: rs1814141098
gnomAD v3: 8-127343318-C-G
gnomAD v4: 8-127343318-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.127343318C>G , CM000670.2:g.127343318C>G GRCh38
NC_000008.10:g.128355564C>G , CM000670.1:g.128355564C>G GRCh37
NC_000008.9:g.128424746C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000645438.1:c.-560+3883C>G (POU5F1B) ENSP00000495779.1:n.-560+3883C>G
NR_117099.1:n.457+3883C>G (CASC21)
NR_117100.1:n.1177-53258G>C (CASC8)
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