Canonical Allele Identifier: CA254100
Gene: POU4F3 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 7078
ClinVar RCV Id: RCV000007494
dbSNP Id: rs398124631

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.146340309_146340316del , CM000667.2:g.146340309_146340316del GRCh38
NC_000005.8:g.145700065_145700072del NCBI36
NC_000005.9:g.145719872_145719879del , CM000667.1:g.145719872_145719879del GRCh37
NG_011885.1:g.6286_6293del

Transcript Alleles

HGVS Amino-acid change
ENST00000230732.4:c.882_889del ENSP00000230732.4:p.Ile295ThrfsTer5
NM_002700.2:c.882_889del VV NP_002691.1:p.Ile295ThrfsTer5