Canonical Allele Identifier: CA3491187
Gene: POU4F3 HGNC NCBI

Linked Data

dbSNP Id: rs771372041
ExAC: 5:145719731 G / C
gnomAD v2: 5-145719731-G-C
gnomAD v3: 5-146340168-G-C
gnomAD v4: 5-146340168-G-C
COSMIC: COSM3210238
MyVariant Identifiers: chr5:g.145719731G>C (hg19) chr5:g.146340168G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.146340168G>C , CM000667.2:g.146340168G>C GRCh38
NC_000005.9:g.145719731G>C , CM000667.1:g.145719731G>C GRCh37
NC_000005.8:g.145699924G>C NCBI36
NG_011885.1:g.6145G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000646991.2:c.741G>C MANE Select ENSP00000495718.1:p.Val247=
ENST00000230732.4:c.741G>C ENSP00000230732.4:p.Val247=
NM_002700.2:c.741G>C NP_002691.1:p.Val247=
NM_002700.3:c.741G>C MANE Select NP_002691.1:p.Val247=
Search 100 bp 5'
Search 100 bp 3'