Canonical Allele Identifier: CA361621142
Gene: POU4F3 HGNC NCBI

Linked Data

dbSNP Id: rs1200909411
gnomAD v2: 5-145719549-C-G
gnomAD v4: 5-146339986-C-G
MyVariant Identifiers: chr5:g.145719549C>G (hg19) chr5:g.146339986C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.146339986C>G , CM000667.2:g.146339986C>G GRCh38
NC_000005.9:g.145719549C>G , CM000667.1:g.145719549C>G GRCh37
NC_000005.8:g.145699742C>G NCBI36
NG_011885.1:g.5963C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000646991.2:c.559C>G MANE Select ENSP00000495718.1:p.Leu187Val
ENST00000230732.4:c.559C>G ENSP00000230732.4:p.Leu187Val
NM_002700.2:c.559C>G NP_002691.1:p.Leu187Val
NM_002700.3:c.559C>G MANE Select NP_002691.1:p.Leu187Val
Search 100 bp 5'
Search 100 bp 3'