Canonical Allele Identifier: CA185736886
Gene: POU5F1B HGNC NCBI
CCAT2 HGNC NCBI
CASC8 HGNC NCBI

Linked Data

dbSNP Id: rs1020780880
gnomAD v2: 8-128413620-T-C
gnomAD v3: 8-127401375-T-C
gnomAD v4: 8-127401375-T-C
MyVariant Identifiers: chr8:g.128413620T>C (hg19) chr8:g.127401375T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.127401375T>C , CM000670.2:g.127401375T>C GRCh38
NC_000008.10:g.128413620T>C , CM000670.1:g.128413620T>C GRCh37
NC_000008.9:g.128482802T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000645438.1:c.-559-13513T>C (POU5F1B) ENSP00000495779.1:n.-559-13513T>C
NR_109834.1:n.977T>C (CCAT2)
NR_117100.1:n.1176+19454A>G (CASC8)
Search 100 bp 5'
Search 100 bp 3'