Canonical Allele Identifier: CA332228343
Gene: POU3F4 HGNC NCBI

Linked Data

dbSNP Id: rs946880872
gnomAD v3: X-83508572-C-T
gnomAD v4: X-83508572-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.83508572C>T , CM000685.2:g.83508572C>T GRCh38
NC_000023.10:g.82763580C>T , CM000685.1:g.82763580C>T GRCh37
NC_000023.9:g.82650236C>T NCBI36
NG_009936.2:g.5312C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000644024.2:c.248C>T MANE Select ENSP00000495996.1:p.Pro83Leu
ENST00000373200.4:c.248C>T ENSP00000362296.2:p.Pro83Leu
NM_000307.4:c.248C>T NP_000298.3:p.Pro83Leu
NM_000307.5:c.248C>T MANE Select NP_000298.3:p.Pro83Leu