Canonical Allele Identifier: CA3491183
Gene: POU4F3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1254529
ClinVar RCV Id: RCV001665454
dbSNP Id: rs556437037
ExAC: 5:145719692 C / T
gnomAD v2: 5-145719692-C-T
gnomAD v3: 5-146340129-C-T
gnomAD v4: 5-146340129-C-T
MyVariant Identifiers: chr5:g.145719692C>T (hg19) chr5:g.146340129C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.146340129C>T , CM000667.2:g.146340129C>T GRCh38
NC_000005.9:g.145719692C>T , CM000667.1:g.145719692C>T GRCh37
NC_000005.8:g.145699885C>T NCBI36
NG_011885.1:g.6106C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000646991.2:c.702C>T MANE Select ENSP00000495718.1:p.Leu234=
ENST00000230732.4:c.702C>T ENSP00000230732.4:p.Leu234=
NM_002700.2:c.702C>T NP_002691.1:p.Leu234=
NM_002700.3:c.702C>T MANE Select NP_002691.1:p.Leu234=
Search 100 bp 5'
Search 100 bp 3'