Canonical Allele Identifier: CA361622084
Gene: POU4F3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1703985
ClinVar RCV Id: RCV002281320
MyVariant Identifiers: chr5:g.145719721T>G (hg19) chr5:g.146340158T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.146340158T>G , CM000667.2:g.146340158T>G GRCh38
NC_000005.9:g.145719721T>G , CM000667.1:g.145719721T>G GRCh37
NC_000005.8:g.145699914T>G NCBI36
NG_011885.1:g.6135T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000646991.2:c.731T>G MANE Select ENSP00000495718.1:p.Leu244Arg
ENST00000230732.4:c.731T>G ENSP00000230732.4:p.Leu244Arg
NM_002700.2:c.731T>G NP_002691.1:p.Leu244Arg
NM_002700.3:c.731T>G MANE Select NP_002691.1:p.Leu244Arg
Search 100 bp 5'
Search 100 bp 3'