Canonical Allele Identifier: CA10462751
Gene: POU3F4 HGNC NCBI

Linked Data

dbSNP Id: rs778214819
ExAC: X:82763547 C / T
gnomAD v2: X-82763547-C-T
gnomAD v4: X-83508539-C-T
MyVariant Identifiers: chrX:g.82763547C>T (hg19) chrX:g.83508539C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.83508539C>T , CM000685.2:g.83508539C>T GRCh38
NC_000023.10:g.82763547C>T , CM000685.1:g.82763547C>T GRCh37
NC_000023.9:g.82650203C>T NCBI36
NG_009936.2:g.5279C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000644024.2:c.215C>T MANE Select ENSP00000495996.1:p.Ala72Val
ENST00000373200.4:c.215C>T ENSP00000362296.2:p.Ala72Val
NM_000307.4:c.215C>T NP_000298.3:p.Ala72Val
NM_000307.5:c.215C>T MANE Select NP_000298.3:p.Ala72Val
Search 100 bp 5'
Search 100 bp 3'