Canonical Allele Identifier: CA1118994078

Gene: POU5F1B CCAT2 CASC8

Linked Data

• dbSNP Id: rs548390369
• gnomAD v3: 8-127401111-T-G
• gnomAD v4: 8-127401111-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.127401111T>G , CM000670.2:g.127401111T>G	GRCh38
NC_000008.10:g.128413356T>G , CM000670.1:g.128413356T>G	GRCh37
NC_000008.9:g.128482538T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000645438.1:c.-559-13777T>G (POU5F1B)	ENSP00000495779.1:n.-559-13777T>G
NR_109834.1:n.713T>G (CCAT2)
NR_117100.1:n.1176+19718A>C (CASC8)