Canonical Allele Identifier: CA1118994039

Gene: POU5F1B CCAT2 CASC8

Linked Data

• dbSNP Id: rs1698941944
• gnomAD v3: 8-127401065-G-A
• gnomAD v4: 8-127401065-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.127401065G>A , CM000670.2:g.127401065G>A	GRCh38
NC_000008.10:g.128413310G>A , CM000670.1:g.128413310G>A	GRCh37
NC_000008.9:g.128482492G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000645438.1:c.-559-13823G>A (POU5F1B)	ENSP00000495779.1:n.-559-13823G>A
NR_109834.1:n.667G>A (CCAT2)
NR_117100.1:n.1176+19764C>T (CASC8)