Canonical Allele Identifier: CA361621930
Gene: POU4F3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1313437
ClinVar RCV Id: RCV001763801
dbSNP Id: rs2126961780
gnomAD v4: 5-146340121-G-C
MyVariant Identifiers: chr5:g.145719684G>C (hg19) chr5:g.146340121G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.146340121G>C , CM000667.2:g.146340121G>C GRCh38
NC_000005.9:g.145719684G>C , CM000667.1:g.145719684G>C GRCh37
NC_000005.8:g.145699877G>C NCBI36
NG_011885.1:g.6098G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000646991.2:c.694G>C MANE Select ENSP00000495718.1:p.Glu232Gln
ENST00000230732.4:c.694G>C ENSP00000230732.4:p.Glu232Gln
NM_002700.2:c.694G>C NP_002691.1:p.Glu232Gln
NM_002700.3:c.694G>C MANE Select NP_002691.1:p.Glu232Gln
Search 100 bp 5'
Search 100 bp 3'