Canonical Allele Identifier: CA185730426
Gene: POU5F1B HGNC NCBI
CASC21 HGNC NCBI
CASC8 HGNC NCBI

Linked Data

dbSNP Id: rs542095292
gnomAD v2: 8-128355645-G-C
gnomAD v3: 8-127343399-G-C
gnomAD v4: 8-127343399-G-C
MyVariant Identifiers: chr8:g.128355645G>C (hg19) chr8:g.127343399G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.127343399G>C , CM000670.2:g.127343399G>C GRCh38
NC_000008.10:g.128355645G>C , CM000670.1:g.128355645G>C GRCh37
NC_000008.9:g.128424827G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000645438.1:c.-560+3964G>C (POU5F1B) ENSP00000495779.1:n.-560+3964G>C
NR_117099.1:n.457+3964G>C (CASC21)
NR_117100.1:n.1177-53339C>G (CASC8)
Search 100 bp 5'
Search 100 bp 3'