Canonical Allele Identifier: CA12798108
Gene: POU5F1B HGNC NCBI
CCAT2 HGNC NCBI
CASC8 HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.127400902C>T
GRCh37 chr8:g.128413147C>T
gnomAD v2:
8:128413147 C / T
gnomAD v3:
8:127400902 C / T
gnomAD v4:
chr8-127400902-C-T
Joint Max Group AF 0.63274623 (AMR)
Genomes Max Group AF 0.63274623 (AMR)
Exomes Max Group AF 0.37031637 (NFE)
dbSNP:
10808556
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.127400902C>T , CM000670.2:g.127400902C>T GRCh38
NC_000008.10:g.128413147C>T , CM000670.1:g.128413147C>T GRCh37
NC_000008.9:g.128482329C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000645438.1:c.-559-13986C>T (POU5F1B) ENSP00000495779.1:n.-559-13986C>T
NR_109834.1:n.504C>T (CCAT2)
NR_117100.1:n.1176+19927G>A (CASC8)
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