Canonical Allele Identifier: CA517478951
Gene: POU3F4 HGNC NCBI

Linked Data

dbSNP Id: rs370722742
gnomAD v2: X-82763581-C-G
gnomAD v3: X-83508573-C-G
gnomAD v4: X-83508573-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.83508573C>G , CM000685.2:g.83508573C>G GRCh38
NC_000023.10:g.82763581C>G , CM000685.1:g.82763581C>G GRCh37
NC_000023.9:g.82650237C>G NCBI36
NG_009936.2:g.5313C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000644024.2:c.249C>G MANE Select ENSP00000495996.1:p.Pro83=
ENST00000373200.4:c.249C>G ENSP00000362296.2:p.Pro83=
NM_000307.4:c.249C>G NP_000298.3:p.Pro83=
NM_000307.5:c.249C>G MANE Select NP_000298.3:p.Pro83=