Canonical Allele Identifier: CA3491120
Gene: POU4F3 HGNC NCBI

Linked Data

ClinVar Variation Id: 3216960
ClinVar RCV Id: RCV004514823
dbSNP Id: rs750662658
ExAC: 5:145719390 G / A
gnomAD v2: 5-145719390-G-A
gnomAD v3: 5-146339827-G-A
gnomAD v4: 5-146339827-G-A
COSMIC: COSM1063805
MyVariant Identifiers: chr5:g.145719390G>A (hg19) chr5:g.146339827G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.146339827G>A , CM000667.2:g.146339827G>A GRCh38
NC_000005.9:g.145719390G>A , CM000667.1:g.145719390G>A GRCh37
NC_000005.8:g.145699583G>A NCBI36
NG_011885.1:g.5804G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000646991.2:c.400G>A MANE Select ENSP00000495718.1:p.Ala134Thr
ENST00000230732.4:c.400G>A ENSP00000230732.4:p.Ala134Thr
NM_002700.2:c.400G>A NP_002691.1:p.Ala134Thr
NM_002700.3:c.400G>A MANE Select NP_002691.1:p.Ala134Thr
Search 100 bp 5'
Search 100 bp 3'