Canonical Allele Identifier: CA182697

Gene: POU3F4

Linked Data

• ClinVar Variation Id: 178629
• ClinVar RCV Id: RCV000155384 ; RCV000315718 ; RCV000966116 ; RCV003965163
• dbSNP Id: rs144417952
• ExAC: X:82763471 C / T
• gnomAD v2: X-82763471-C-T
• gnomAD v3: X-83508463-C-T
• gnomAD v4: X-83508463-C-T
• MyVariant Identifiers: chrX:g.82763471C>T (hg19) ; chrX:g.83508463C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.83508463C>T , CM000685.2:g.83508463C>T	GRCh38
NC_000023.10:g.82763471C>T , CM000685.1:g.82763471C>T	GRCh37
NC_000023.9:g.82650127C>T	NCBI36
NG_009936.2:g.5203C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000644024.2:c.139C>T MANE Select	ENSP00000495996.1:p.Pro47Ser
ENST00000373200.4:c.139C>T	ENSP00000362296.2:p.Pro47Ser
NM_000307.4:c.139C>T	NP_000298.3:p.Pro47Ser
NM_000307.5:c.139C>T MANE Select	NP_000298.3:p.Pro47Ser