Canonical Allele Identifier: CA185736847

Gene: POU5F1B CCAT2 CASC8

Linked Data

• dbSNP Id: rs1023518312
• gnomAD v3: 8-127401029-C-A
• gnomAD v4: 8-127401029-C-A
• MyVariant Identifiers: chr8:g.128413274C>A (hg19) ; chr8:g.127401029C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.127401029C>A , CM000670.2:g.127401029C>A	GRCh38
NC_000008.10:g.128413274C>A , CM000670.1:g.128413274C>A	GRCh37
NC_000008.9:g.128482456C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000645438.1:c.-559-13859C>A (POU5F1B)	ENSP00000495779.1:n.-559-13859C>A
NR_109834.1:n.631C>A (CCAT2)
NR_117100.1:n.1176+19800G>T (CASC8)