Canonical Allele Identifier: CA3491109
Gene: POU4F3 HGNC NCBI

Linked Data

dbSNP Id: rs760748067
ExAC: 5:145719327 CA / C
gnomAD v2: 5-145719327-CA-C
MyVariant Identifiers: chr5:g.145719328del (hg19) chr5:g.146339765del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.146339765del , CM000667.2:g.146339765del GRCh38
NC_000005.9:g.145719328del , CM000667.1:g.145719328del GRCh37
NC_000005.8:g.145699521del NCBI36
NG_011885.1:g.5742del

Transcript Alleles

HGVS Amino-acid Change
ENST00000646991.2:c.338del MANE Select ENSP00000495718.1:p.Gln113ArgfsTer15
ENST00000230732.4:c.338del ENSP00000230732.4:p.Gln113ArgfsTer15
NM_002700.2:c.338del NP_002691.1:p.Gln113ArgfsTer15
NM_002700.3:c.338del MANE Select NP_002691.1:p.Gln113ArgfsTer15
Search 100 bp 5'
Search 100 bp 3'