Canonical Allele Identifier: CA413751344
Gene: POU3F4 HGNC NCBI

Linked Data

gnomAD v4: X-83508671-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.83508671C>T , CM000685.2:g.83508671C>T GRCh38
NC_000023.10:g.82763679C>T , CM000685.1:g.82763679C>T GRCh37
NC_000023.9:g.82650335C>T NCBI36
NG_009936.2:g.5411C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000644024.2:c.347C>T MANE Select ENSP00000495996.1:p.Ala116Val
ENST00000373200.4:c.347C>T ENSP00000362296.2:p.Ala116Val
NM_000307.4:c.347C>T NP_000298.3:p.Ala116Val
NM_000307.5:c.347C>T MANE Select NP_000298.3:p.Ala116Val