Canonical Allele Identifier: CA185730407
Gene: POU5F1B HGNC NCBI
CASC21 HGNC NCBI
CASC8 HGNC NCBI

Linked Data

dbSNP Id: rs946760947
gnomAD v2: 8-128355525-A-C
gnomAD v3: 8-127343279-A-C
gnomAD v4: 8-127343279-A-C
MyVariant Identifiers: chr8:g.128355525A>C (hg19) chr8:g.127343279A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.127343279A>C , CM000670.2:g.127343279A>C GRCh38
NC_000008.10:g.128355525A>C , CM000670.1:g.128355525A>C GRCh37
NC_000008.9:g.128424707A>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000645438.1:c.-560+3844A>C (POU5F1B) ENSP00000495779.1:n.-560+3844A>C
NR_117099.1:n.457+3844A>C (CASC21)
NR_117100.1:n.1177-53219T>G (CASC8)
Search 100 bp 5'
Search 100 bp 3'