Canonical Allele Identifier: CA185730393

Gene: POU5F1B CASC21 CASC8

Linked Data

• dbSNP Id: rs969949894
• gnomAD v2: 8-128355400-C-T
• gnomAD v3: 8-127343154-C-T
• gnomAD v4: 8-127343154-C-T
• MyVariant Identifiers: chr8:g.128355400C>T (hg19) ; chr8:g.127343154C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.127343154C>T , CM000670.2:g.127343154C>T	GRCh38
NC_000008.10:g.128355400C>T , CM000670.1:g.128355400C>T	GRCh37
NC_000008.9:g.128424582C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645438.1:c.-560+3719C>T (POU5F1B)	ENSP00000495779.1:n.-560+3719C>T
NR_117099.1:n.457+3719C>T (CASC21)
NR_117100.1:n.1177-53094G>A (CASC8)