Canonical Allele Identifier: CA134579

Gene: POU4F3

Linked Data

• ClinVar Variation Id: 44579
• ClinVar RCV Id: RCV000037581 ; RCV000349659 ; RCV000956320 ; RCV003914941
• dbSNP Id: rs6885298
• ExAC: 5:145719827 G / T
• gnomAD v2: 5-145719827-G-T
• gnomAD v3: 5-146340264-G-T
• gnomAD v4: 5-146340264-G-T
• MyVariant Identifiers: chr5:g.145719827G>T (hg19) ; chr5:g.146340264G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.146340264G>T , CM000667.2:g.146340264G>T	GRCh38
NC_000005.9:g.145719827G>T , CM000667.1:g.145719827G>T	GRCh37
NC_000005.8:g.145700020G>T	NCBI36
NG_011885.1:g.6241G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646991.2:c.837G>T MANE Select	ENSP00000495718.1:p.Thr279=
ENST00000230732.4:c.837G>T	ENSP00000230732.4:p.Thr279=
NM_002700.2:c.837G>T	NP_002691.1:p.Thr279=
NM_002700.3:c.837G>T MANE Select	NP_002691.1:p.Thr279=