Canonical Allele Identifier: CA847153733

Gene: POU5F1B CCAT2 CASC8

Linked Data

• dbSNP Id: rs1172187098
• gnomAD v3: 8-127401107-T-G
• gnomAD v4: 8-127401107-T-G
• MyVariant Identifiers: chr8:g.128413352T>G (hg19) ; chr8:g.127401107T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.127401107T>G , CM000670.2:g.127401107T>G	GRCh38
NC_000008.10:g.128413352T>G , CM000670.1:g.128413352T>G	GRCh37
NC_000008.9:g.128482534T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000645438.1:c.-559-13781T>G (POU5F1B)	ENSP00000495779.1:n.-559-13781T>G
NR_109834.1:n.709T>G (CCAT2)
NR_117100.1:n.1176+19722A>C (CASC8)