Canonical Allele Identifier: CA1118993914

Gene: POU5F1B CCAT2 CASC8

Linked Data

• dbSNP Id: rs1814930583
• gnomAD v3: 8-127400899-C-T
• gnomAD v4: 8-127400899-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.127400899C>T , CM000670.2:g.127400899C>T	GRCh38
NC_000008.10:g.128413144C>T , CM000670.1:g.128413144C>T	GRCh37
NC_000008.9:g.128482326C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645438.1:c.-559-13989C>T (POU5F1B)	ENSP00000495779.1:n.-559-13989C>T
NR_109834.1:n.501C>T (CCAT2)
NR_117100.1:n.1176+19930G>A (CASC8)