Canonical Allele Identifier: CA1119008219

Gene: POU5F1B CASC21 CASC8

Linked Data

• dbSNP Id: rs1814140207
• gnomAD v3: 8-127343271-T-C
• gnomAD v4: 8-127343271-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.127343271T>C , CM000670.2:g.127343271T>C	GRCh38
NC_000008.10:g.128355517T>C , CM000670.1:g.128355517T>C	GRCh37
NC_000008.9:g.128424699T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645438.1:c.-560+3836T>C (POU5F1B)	ENSP00000495779.1:n.-560+3836T>C
NR_117099.1:n.457+3836T>C (CASC21)
NR_117100.1:n.1177-53211A>G (CASC8)