Canonical Allele Identifier: CA361622666
Gene: POU4F3 HGNC NCBI

Linked Data

ClinVar Variation Id: 517410
ClinVar RCV Id: RCV000601487
dbSNP Id: rs762710510

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.146340263C>G , CM000667.2:g.146340263C>G GRCh38
NC_000005.9:g.145719826C>G , CM000667.1:g.145719826C>G GRCh37
NC_000005.8:g.145700019C>G NCBI36
NG_011885.1:g.6240C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000646991.2:c.836C>G MANE Select ENSP00000495718.1:p.Thr279Arg
ENST00000230732.4:c.836C>G ENSP00000230732.4:p.Thr279Arg
NM_002700.2:c.836C>G NP_002691.1:p.Thr279Arg
NM_002700.3:c.836C>G MANE Select NP_002691.1:p.Thr279Arg