Canonical Allele Identifier: CA382014884
Gene: FZD4 HGNC NCBI
PRSS23 HGNC NCBI

Linked Data

ClinVar Variation Id: 2784467
ClinVar RCV Id: RCV003662246
dbSNP Id: rs781634932
gnomAD v2: 11-86663115-C-G
gnomAD v3: 11-86952073-C-G
gnomAD v4: 11-86952073-C-G
MyVariant Identifiers: chr11:g.86663115C>G (hg19) chr11:g.86952073C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.86952073C>G , CM000673.2:g.86952073C>G GRCh38
NC_000011.9:g.86663115C>G , CM000673.1:g.86663115C>G GRCh37
NC_000011.8:g.86340763C>G NCBI36
NG_011752.1:g.8319G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000531380.2:c.683G>C (FZD4) MANE Select ENSP00000434034.1:p.Ser228Thr
ENST00000531380.1:c.683G>C (FZD4) ENSP00000434034.1:p.Ser228Thr
ENST00000532234.5:c.*1066C>G (PRSS23) ENSP00000436676.1:n.*1066C>G
ENST00000533902.2:c.*788C>G (PRSS23) ENSP00000437268.1:n.*788C>G
NM_012193.3:c.683G>C (FZD4) NP_036325.2:p.Ser228Thr
NR_120591.1:n.1738C>G (PRSS23)
NR_120592.1:n.1487C>G (PRSS23)
NR_120591.2:n.1436C>G (PRSS23)
NR_120592.2:n.1185C>G (PRSS23)
NM_012193.4:c.683G>C (FZD4) MANE Select NP_036325.2:p.Ser228Thr
NR_120591.3:n.1436C>G (PRSS23)
Search 100 bp 5'
Search 100 bp 3'