Canonical Allele Identifier: CA185730422
Gene: POU5F1B HGNC NCBI
CASC21 HGNC NCBI
CASC8 HGNC NCBI

Linked Data

dbSNP Id: rs763808426
gnomAD v2: 8-128355625-C-T
gnomAD v3: 8-127343379-C-T
gnomAD v4: 8-127343379-C-T
MyVariant Identifiers: chr8:g.128355625C>T (hg19) chr8:g.127343379C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.127343379C>T , CM000670.2:g.127343379C>T GRCh38
NC_000008.10:g.128355625C>T , CM000670.1:g.128355625C>T GRCh37
NC_000008.9:g.128424807C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000645438.1:c.-560+3944C>T (POU5F1B) ENSP00000495779.1:n.-560+3944C>T
NR_117099.1:n.457+3944C>T (CASC21)
NR_117100.1:n.1177-53319G>A (CASC8)
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