Canonical Allele Identifier: CA361620109
Gene: POU4F3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2622066
ClinVar RCV Id: RCV003386680
MyVariant Identifiers: chr5:g.145719136T>G (hg19) chr5:g.146339573T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.146339573T>G , CM000667.2:g.146339573T>G GRCh38
NC_000005.9:g.145719136T>G , CM000667.1:g.145719136T>G GRCh37
NC_000005.8:g.145699329T>G NCBI36
NG_011885.1:g.5550T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000646991.2:c.146T>G MANE Select ENSP00000495718.1:p.Phe49Cys
ENST00000230732.4:c.146T>G ENSP00000230732.4:p.Phe49Cys
NM_002700.2:c.146T>G NP_002691.1:p.Phe49Cys
NM_002700.3:c.146T>G MANE Select NP_002691.1:p.Phe49Cys
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