Canonical Allele Identifier: CA3491122
Gene: POU4F3 HGNC NCBI

Linked Data

ClinVar Variation Id: 904355
ClinVar RCV Id: RCV001152221 RCV001772347 RCV003953538
dbSNP Id: rs145372405
ExAC: 5:145719395 G / A
gnomAD v2: 5-145719395-G-A
gnomAD v3: 5-146339832-G-A
gnomAD v4: 5-146339832-G-A
MyVariant Identifiers: chr5:g.145719395G>A (hg19) chr5:g.146339832G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.146339832G>A , CM000667.2:g.146339832G>A GRCh38
NC_000005.9:g.145719395G>A , CM000667.1:g.145719395G>A GRCh37
NC_000005.8:g.145699588G>A NCBI36
NG_011885.1:g.5809G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000646991.2:c.405G>A MANE Select ENSP00000495718.1:p.Pro135=
ENST00000230732.4:c.405G>A ENSP00000230732.4:p.Pro135=
NM_002700.2:c.405G>A NP_002691.1:p.Pro135=
NM_002700.3:c.405G>A MANE Select NP_002691.1:p.Pro135=
Search 100 bp 5'
Search 100 bp 3'