Canonical Allele Identifier: CA1118993892
Gene: POU5F1B HGNC NCBI
CCAT2 HGNC NCBI
CASC8 HGNC NCBI

Linked Data

dbSNP Id: rs1814929989
gnomAD v3: 8-127400838-T-C
gnomAD v4: 8-127400838-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.127400838T>C , CM000670.2:g.127400838T>C GRCh38
NC_000008.10:g.128413083T>C , CM000670.1:g.128413083T>C GRCh37
NC_000008.9:g.128482265T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000645438.1:c.-559-14050T>C (POU5F1B) ENSP00000495779.1:n.-559-14050T>C
NR_109834.1:n.440T>C (CCAT2)
NR_117100.1:n.1176+19991A>G (CASC8)
Search 100 bp 5'
Search 100 bp 3'