Canonical Allele Identifier: CA847153615

Gene: POU5F1B CCAT2 CASC8

Linked Data

• dbSNP Id: rs1469135306
• gnomAD v3: 8-127400913-T-C
• gnomAD v4: 8-127400913-T-C
• MyVariant Identifiers: chr8:g.128413158T>C (hg19) ; chr8:g.127400913T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.127400913T>C , CM000670.2:g.127400913T>C	GRCh38
NC_000008.10:g.128413158T>C , CM000670.1:g.128413158T>C	GRCh37
NC_000008.9:g.128482340T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000645438.1:c.-559-13975T>C (POU5F1B)	ENSP00000495779.1:n.-559-13975T>C
NR_109834.1:n.515T>C (CCAT2)
NR_117100.1:n.1176+19916A>G (CASC8)