Canonical Allele Identifier: CA447097622
Gene: POU4F3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.145719359C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.146339796C>T , CM000667.2:g.146339796C>T GRCh38
NC_000005.9:g.145719359C>T , CM000667.1:g.145719359C>T GRCh37
NC_000005.8:g.145699552C>T NCBI36
NG_011885.1:g.5773C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000646991.2:c.369C>T MANE Select ENSP00000495718.1:p.Ile123=
ENST00000230732.4:c.369C>T ENSP00000230732.4:p.Ile123=
NM_002700.2:c.369C>T NP_002691.1:p.Ile123=
NM_002700.3:c.369C>T MANE Select NP_002691.1:p.Ile123=