Canonical Allele Identifier: CA6218451
Gene: FZD4 HGNC NCBI
PRSS23 HGNC NCBI
ClinVar RCV:
RCV000368489
RCV000455735
RCV001512894
ClinVar Variation:
306407
dbSNP:
61735303
gnomAD v2:
11:86663296 G / A
gnomAD v3:
11:86952254 G / A
gnomAD v4:
chr11-86952254-G-A
Joint Max Group AF 0.03668644 (AMR)
Genomes Max Group AF 0.02239386 (SAS)
Exomes Max Group AF 0.04176977 (AMR)
MyVariant.info:
GRCh38 chr11:g.86952254G>A
GRCh37 chr11:g.86663296G>A
Revel Score:
ENST00000531380 (MANE Select) 0.330
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.86952254G>A , CM000673.2:g.86952254G>A GRCh38
NC_000011.9:g.86663296G>A , CM000673.1:g.86663296G>A GRCh37
NC_000011.8:g.86340944G>A NCBI36
NG_011752.1:g.8138C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000531380.2:c.502C>T (FZD4) MANE Select ENSP00000434034.1:p.Pro168Ser
ENST00000531380.1:c.502C>T (FZD4) ENSP00000434034.1:p.Pro168Ser
ENST00000532234.5:c.*1247G>A (PRSS23) ENSP00000436676.1:n.*1247G>A
ENST00000533902.2:c.*969G>A (PRSS23) ENSP00000437268.1:n.*969G>A
NM_012193.3:c.502C>T (FZD4) NP_036325.2:p.Pro168Ser
NR_120591.1:n.1919G>A (PRSS23)
NR_120592.1:n.1668G>A (PRSS23)
NR_120591.2:n.1617G>A (PRSS23)
NR_120592.2:n.1366G>A (PRSS23)
NM_012193.4:c.502C>T (FZD4) MANE Select NP_036325.2:p.Pro168Ser
NR_120591.3:n.1617G>A (PRSS23)
Search 100 bp 5'
Search 100 bp 3'