Canonical Allele Identifier: CA185730418
Gene: POU5F1B HGNC NCBI
CASC21 HGNC NCBI
CASC8 HGNC NCBI

Linked Data

dbSNP Id: rs59561127
gnomAD v2: 8-128355567-G-T
gnomAD v3: 8-127343321-G-T
gnomAD v4: 8-127343321-G-T
MyVariant Identifiers: chr8:g.128355567G>T (hg19) chr8:g.127343321G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.127343321G>T , CM000670.2:g.127343321G>T GRCh38
NC_000008.10:g.128355567G>T , CM000670.1:g.128355567G>T GRCh37
NC_000008.9:g.128424749G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000645438.1:c.-560+3886G>T (POU5F1B) ENSP00000495779.1:n.-560+3886G>T
NR_117099.1:n.457+3886G>T (CASC21)
NR_117100.1:n.1177-53261C>A (CASC8)
Search 100 bp 5'
Search 100 bp 3'