Canonical Allele Identifier: CA446918832
Gene: POU4F3 HGNC NCBI

Linked Data

dbSNP Id: rs746820726
gnomAD v2: 5-145719308-C-T
gnomAD v3: 5-146339745-C-T
gnomAD v4: 5-146339745-C-T
MyVariant Identifiers: chr5:g.145719308C>T (hg19) chr5:g.146339745C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.146339745C>T , CM000667.2:g.146339745C>T GRCh38
NC_000005.9:g.145719308C>T , CM000667.1:g.145719308C>T GRCh37
NC_000005.8:g.145699501C>T NCBI36
NG_011885.1:g.5722C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000646991.2:c.318C>T MANE Select ENSP00000495718.1:p.His106=
ENST00000230732.4:c.318C>T ENSP00000230732.4:p.His106=
NM_002700.2:c.318C>T NP_002691.1:p.His106=
NM_002700.3:c.318C>T MANE Select NP_002691.1:p.His106=
Search 100 bp 5'
Search 100 bp 3'