Canonical Allele Identifier: CA3491202

Gene: POU4F3

Linked Data

• ClinVar Variation Id: 227856
• ClinVar RCV Id: RCV000221384 ; RCV000404483 ; RCV000895719
• dbSNP Id: rs149975083
• ExAC: 5:145719782 C / T
• gnomAD v2: 5-145719782-C-T
• gnomAD v3: 5-146340219-C-T
• gnomAD v4: 5-146340219-C-T
• COSMIC: COSM4003370
• MyVariant Identifiers: chr5:g.145719782C>T (hg19) ; chr5:g.146340219C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.146340219C>T , CM000667.2:g.146340219C>T	GRCh38
NC_000005.9:g.145719782C>T , CM000667.1:g.145719782C>T	GRCh37
NC_000005.8:g.145699975C>T	NCBI36
NG_011885.1:g.6196C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000646991.2:c.792C>T MANE Select	ENSP00000495718.1:p.Ser264=
ENST00000230732.4:c.792C>T	ENSP00000230732.4:p.Ser264=
NM_002700.2:c.792C>T	NP_002691.1:p.Ser264=
NM_002700.3:c.792C>T MANE Select	NP_002691.1:p.Ser264=