Canonical Allele Identifier: CA361620631
Gene: POU4F3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1948575
ClinVar RCV Id: RCV002685787
MyVariant Identifiers: chr5:g.145719396G>C (hg19) chr5:g.146339833G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.146339833G>C , CM000667.2:g.146339833G>C GRCh38
NC_000005.9:g.145719396G>C , CM000667.1:g.145719396G>C GRCh37
NC_000005.8:g.145699589G>C NCBI36
NG_011885.1:g.5810G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000646991.2:c.406G>C MANE Select ENSP00000495718.1:p.Glu136Gln
ENST00000230732.4:c.406G>C ENSP00000230732.4:p.Glu136Gln
NM_002700.2:c.406G>C NP_002691.1:p.Glu136Gln
NM_002700.3:c.406G>C MANE Select NP_002691.1:p.Glu136Gln
Search 100 bp 5'
Search 100 bp 3'