Canonical Allele Identifier: CA847153754

Gene: POU5F1B CCAT2 CASC8

Linked Data

• dbSNP Id: rs1248950444
• gnomAD v3: 8-127401129-C-T
• gnomAD v4: 8-127401129-C-T
• MyVariant Identifiers: chr8:g.128413374C>T (hg19) ; chr8:g.127401129C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.127401129C>T , CM000670.2:g.127401129C>T	GRCh38
NC_000008.10:g.128413374C>T , CM000670.1:g.128413374C>T	GRCh37
NC_000008.9:g.128482556C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000645438.1:c.-559-13759C>T (POU5F1B)	ENSP00000495779.1:n.-559-13759C>T
NR_109834.1:n.731C>T (CCAT2)
NR_117100.1:n.1176+19700G>A (CASC8)