Canonical Allele Identifier: CA361622137
Gene: POU4F3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1065082
ClinVar RCV Id: RCV001375423
dbSNP Id: rs2126961833
MyVariant Identifiers: chr5:g.145719736A>C (hg19) chr5:g.146340173A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.146340173A>C , CM000667.2:g.146340173A>C GRCh38
NC_000005.9:g.145719736A>C , CM000667.1:g.145719736A>C GRCh37
NC_000005.8:g.145699929A>C NCBI36
NG_011885.1:g.6150A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000646991.2:c.746A>C MANE Select ENSP00000495718.1:p.Gln249Pro
ENST00000230732.4:c.746A>C ENSP00000230732.4:p.Gln249Pro
NM_002700.2:c.746A>C NP_002691.1:p.Gln249Pro
NM_002700.3:c.746A>C MANE Select NP_002691.1:p.Gln249Pro
Search 100 bp 5'
Search 100 bp 3'