Canonical Allele Identifier: CA413751343
Gene: POU3F4 HGNC NCBI

Linked Data

gnomAD v4: X-83508671-C-G

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000644024.2:c.347C>G MANE Select ENSP00000495996.1:p.Ala116Gly
ENST00000373200.4:c.347C>G ENSP00000362296.2:p.Ala116Gly
NM_000307.4:c.347C>G NP_000298.3:p.Ala116Gly
NM_000307.5:c.347C>G MANE Select NP_000298.3:p.Ala116Gly