Canonical Allele Identifier: CA3491134

Gene: POU4F3

Linked Data

• ClinVar Variation Id: 351381
• ClinVar RCV Id: RCV000328484 ; RCV002520329 ; RCV001821076
• dbSNP Id: rs761965263
• ExAC: 5:145719432 C / T
• gnomAD v2: 5-145719432-C-T
• gnomAD v3: 5-146339869-C-T
• gnomAD v4: 5-146339869-C-T
• MyVariant Identifiers: chr5:g.145719432C>T (hg19) ; chr5:g.146339869C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.146339869C>T , CM000667.2:g.146339869C>T	GRCh38
NC_000005.9:g.145719432C>T , CM000667.1:g.145719432C>T	GRCh37
NC_000005.8:g.145699625C>T	NCBI36
NG_011885.1:g.5846C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646991.2:c.442C>T MANE Select	ENSP00000495718.1:p.His148Tyr
ENST00000230732.4:c.442C>T	ENSP00000230732.4:p.His148Tyr
NM_002700.2:c.442C>T	NP_002691.1:p.His148Tyr
NM_002700.3:c.442C>T MANE Select	NP_002691.1:p.His148Tyr