Canonical Allele Identifier: CA1818352134

Gene: POU5F1B CCAT2 CASC8

Linked Data

• dbSNP Id: rs1586468318
• gnomAD v4: 8-127400957-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.127400957T>C , CM000670.2:g.127400957T>C	GRCh38
NC_000008.10:g.128413202T>C , CM000670.1:g.128413202T>C	GRCh37
NC_000008.9:g.128482384T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645438.1:c.-559-13931T>C (POU5F1B)	ENSP00000495779.1:n.-559-13931T>C
NR_109834.1:n.559T>C (CCAT2)
NR_117100.1:n.1176+19872A>G (CASC8)