Canonical Allele Identifier: CA12798109

Gene: POU5F1B CCAT2 CASC8

Linked Data

• dbSNP Id: rs6983267
• gnomAD v2: 8-128413305-G-T
• gnomAD v3: 8-127401060-G-T
• gnomAD v4: 8-127401060-G-T
• MyVariant Identifiers: chr8:g.128413305G>T (hg19) ; chr8:g.127401060G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.127401060G>T , CM000670.2:g.127401060G>T	GRCh38
NC_000008.10:g.128413305G>T , CM000670.1:g.128413305G>T	GRCh37
NC_000008.9:g.128482487G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000645438.1:c.-559-13828G>T (POU5F1B)	ENSP00000495779.1:n.-559-13828G>T
NR_109834.1:n.662G>T (CCAT2)
NR_117100.1:n.1176+19769C>A (CASC8)