Canonical Allele Identifier: CA823851332
Gene: POU5F1 HGNC NCBI

Linked Data

dbSNP Id: rs1468941109
gnomAD v3: 6-31172206-C-G
gnomAD v4: 6-31172206-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31172206C>G , CM000668.2:g.31172206C>G GRCh38
NC_000006.11:g.31139983C>G , CM000668.1:g.31139983C>G GRCh37
NC_000006.10:g.31247962C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000441888.7:c.-183-6159G>C ENSP00000389359.2:n.-183-6159G>C