Canonical Allele Identifier: CA6218482
Gene: FZD4 HGNC NCBI
PRSS23 HGNC NCBI

Linked Data

ClinVar Variation Id: 1656330
ClinVar RCV Id: RCV002168936
dbSNP Id: rs368313134
ExAC: 11:86663507 G / A
gnomAD v2: 11-86663507-G-A
gnomAD v3: 11-86952465-G-A
gnomAD v4: 11-86952465-G-A
MyVariant Identifiers: chr11:g.86663507G>A (hg19) chr11:g.86952465G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.86952465G>A , CM000673.2:g.86952465G>A GRCh38
NC_000011.9:g.86663507G>A , CM000673.1:g.86663507G>A GRCh37
NC_000011.8:g.86341155G>A NCBI36
NG_011752.1:g.7927C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000531380.2:c.291C>T (FZD4) MANE Select ENSP00000434034.1:p.Phe97=
ENST00000531380.1:c.291C>T (FZD4) ENSP00000434034.1:p.Phe97=
ENST00000532234.5:c.*1458G>A (PRSS23) ENSP00000436676.1:n.*1458G>A
ENST00000533902.2:c.*1180G>A (PRSS23) ENSP00000437268.1:n.*1180G>A
NM_012193.3:c.291C>T (FZD4) NP_036325.2:p.Phe97=
NR_120591.1:n.2130G>A (PRSS23)
NR_120592.1:n.1879G>A (PRSS23)
NR_120591.2:n.1828G>A (PRSS23)
NR_120592.2:n.1577G>A (PRSS23)
NM_012193.4:c.291C>T (FZD4) MANE Select NP_036325.2:p.Phe97=
NR_120591.3:n.1828G>A (PRSS23)
Search 100 bp 5'
Search 100 bp 3'