Canonical Allele Identifier: CA136823641
Gene: POU5F1 HGNC NCBI

Linked Data

dbSNP Id: rs181411189
gnomAD v2: 6-31140125-G-C
gnomAD v3: 6-31172348-G-C
gnomAD v4: 6-31172348-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31172348G>C , CM000668.2:g.31172348G>C GRCh38
NC_000006.11:g.31140125G>C , CM000668.1:g.31140125G>C GRCh37
NC_000006.10:g.31248104G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000441888.7:c.-183-6301C>G ENSP00000389359.2:n.-183-6301C>G