Canonical Allele Identifier: CA1818335474

Gene: POU5F1B CASC21 CASC8

Linked Data

• dbSNP Id: rs1814140130
• gnomAD v3: 8-127343267-G-A
• gnomAD v4: 8-127343267-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.127343267G>A , CM000670.2:g.127343267G>A	GRCh38
NC_000008.10:g.128355513G>A , CM000670.1:g.128355513G>A	GRCh37
NC_000008.9:g.128424695G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645438.1:c.-560+3832G>A (POU5F1B)	ENSP00000495779.1:n.-560+3832G>A
NR_117099.1:n.457+3832G>A (CASC21)
NR_117100.1:n.1177-53207C>T (CASC8)