Canonical Allele Identifier: CA566335526
Gene: POU5F1 HGNC NCBI

Linked Data

dbSNP Id: rs1236461270
gnomAD v2: 6-31140069-G-A
gnomAD v3: 6-31172292-G-A
gnomAD v4: 6-31172292-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31172292G>A , CM000668.2:g.31172292G>A GRCh38
NC_000006.11:g.31140069G>A , CM000668.1:g.31140069G>A GRCh37
NC_000006.10:g.31248048G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000441888.7:c.-183-6245C>T ENSP00000389359.2:n.-183-6245C>T