Canonical Allele Identifier: CA185730412
Gene: POU5F1B HGNC NCBI
CASC21 HGNC NCBI
CASC8 HGNC NCBI

Linked Data

dbSNP Id: rs553413914
gnomAD v2: 8-128355547-A-G
gnomAD v3: 8-127343301-A-G
gnomAD v4: 8-127343301-A-G
MyVariant Identifiers: chr8:g.128355547A>G (hg19) chr8:g.127343301A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.127343301A>G , CM000670.2:g.127343301A>G GRCh38
NC_000008.10:g.128355547A>G , CM000670.1:g.128355547A>G GRCh37
NC_000008.9:g.128424729A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000645438.1:c.-560+3866A>G (POU5F1B) ENSP00000495779.1:n.-560+3866A>G
NR_117099.1:n.457+3866A>G (CASC21)
NR_117100.1:n.1177-53241T>C (CASC8)
Search 100 bp 5'
Search 100 bp 3'