Canonical Allele Identifier: CA1087426115
Gene: POU5F1 HGNC NCBI

Linked Data

dbSNP Id: rs1777685561
gnomAD v3: 6-31172267-G-A
gnomAD v4: 6-31172267-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31172267G>A , CM000668.2:g.31172267G>A GRCh38
NC_000006.11:g.31140044G>A , CM000668.1:g.31140044G>A GRCh37
NC_000006.10:g.31248023G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000441888.7:c.-183-6220C>T ENSP00000389359.2:n.-183-6220C>T