Canonical Allele Identifier: CA1118993903

Gene: POU5F1B CCAT2 CASC8

Linked Data

• dbSNP Id: rs1814930186
• gnomAD v3: 8-127400865-C-T
• gnomAD v4: 8-127400865-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.127400865C>T , CM000670.2:g.127400865C>T	GRCh38
NC_000008.10:g.128413110C>T , CM000670.1:g.128413110C>T	GRCh37
NC_000008.9:g.128482292C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645438.1:c.-559-14023C>T (POU5F1B)	ENSP00000495779.1:n.-559-14023C>T
NR_109834.1:n.467C>T (CCAT2)
NR_117100.1:n.1176+19964G>A (CASC8)