Canonical Allele Identifier: CA185736843
Gene: POU5F1B HGNC NCBI
CCAT2 HGNC NCBI
CASC8 HGNC NCBI

Linked Data

dbSNP Id: rs1026716232
gnomAD v2: 8-128413260-C-T
gnomAD v3: 8-127401015-C-T
gnomAD v4: 8-127401015-C-T
MyVariant Identifiers: chr8:g.128413260C>T (hg19) chr8:g.127401015C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.127401015C>T , CM000670.2:g.127401015C>T GRCh38
NC_000008.10:g.128413260C>T , CM000670.1:g.128413260C>T GRCh37
NC_000008.9:g.128482442C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000645438.1:c.-559-13873C>T (POU5F1B) ENSP00000495779.1:n.-559-13873C>T
NR_109834.1:n.617C>T (CCAT2)
NR_117100.1:n.1176+19814G>A (CASC8)
Search 100 bp 5'
Search 100 bp 3'