Canonical Allele Identifier: CA847160715

Gene: POU5F1B CASC21 CASC8

Linked Data

• dbSNP Id: rs1418939747
• gnomAD v3: 8-127343218-A-G
• gnomAD v4: 8-127343218-A-G
• MyVariant Identifiers: chr8:g.128355464A>G (hg19) ; chr8:g.127343218A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.127343218A>G , CM000670.2:g.127343218A>G	GRCh38
NC_000008.10:g.128355464A>G , CM000670.1:g.128355464A>G	GRCh37
NC_000008.9:g.128424646A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645438.1:c.-560+3783A>G (POU5F1B)	ENSP00000495779.1:n.-560+3783A>G
NR_117099.1:n.457+3783A>G (CASC21)
NR_117100.1:n.1177-53158T>C (CASC8)