Canonical Allele Identifier: CA185730406
Gene: POU5F1B HGNC NCBI
CASC21 HGNC NCBI
CASC8 HGNC NCBI

Linked Data

dbSNP Id: rs79681639
gnomAD v2: 8-128355514-C-G
gnomAD v3: 8-127343268-C-G
gnomAD v4: 8-127343268-C-G
MyVariant Identifiers: chr8:g.128355514C>G (hg19) chr8:g.127343268C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.127343268C>G , CM000670.2:g.127343268C>G GRCh38
NC_000008.10:g.128355514C>G , CM000670.1:g.128355514C>G GRCh37
NC_000008.9:g.128424696C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000645438.1:c.-560+3833C>G (POU5F1B) ENSP00000495779.1:n.-560+3833C>G
NR_117099.1:n.457+3833C>G (CASC21)
NR_117100.1:n.1177-53208G>C (CASC8)
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