Canonical Allele Identifier: CA517479173
Gene: POU3F4 HGNC NCBI

Linked Data

dbSNP Id: rs1357893250
gnomAD v3: X-83509083-C-T
gnomAD v4: X-83509083-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.83509083C>T , CM000685.2:g.83509083C>T GRCh38
NC_000023.10:g.82764091C>T , CM000685.1:g.82764091C>T GRCh37
NC_000023.9:g.82650747C>T NCBI36
NG_009936.2:g.5823C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000644024.2:c.759C>T MANE Select ENSP00000495996.1:p.Asn253=
ENST00000373200.4:c.759C>T ENSP00000362296.2:p.Asn253=
NM_000307.4:c.759C>T NP_000298.3:p.Asn253=
NM_000307.5:c.759C>T MANE Select NP_000298.3:p.Asn253=