Canonical Allele Identifier: CA16619413
Gene: FZD4 HGNC NCBI
PRSS23 HGNC NCBI

Linked Data

ClinVar Variation Id: 418221
ClinVar RCV Id: RCV000478882
dbSNP Id: rs1064793132
MyVariant Identifiers: chr11:g.86663122A>G (hg19) chr11:g.86952080A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.86952080A>G , CM000673.2:g.86952080A>G GRCh38
NC_000011.9:g.86663122A>G , CM000673.1:g.86663122A>G GRCh37
NC_000011.8:g.86340770A>G NCBI36
NG_011752.1:g.8312T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000531380.2:c.676T>C (FZD4) MANE Select ENSP00000434034.1:p.Trp226Arg
ENST00000531380.1:c.676T>C (FZD4) ENSP00000434034.1:p.Trp226Arg
ENST00000532234.5:c.*1073A>G (PRSS23) ENSP00000436676.1:n.*1073A>G
ENST00000533902.2:c.*795A>G (PRSS23) ENSP00000437268.1:n.*795A>G
NM_012193.3:c.676T>C (FZD4) NP_036325.2:p.Trp226Arg
NR_120591.1:n.1745A>G (PRSS23)
NR_120592.1:n.1494A>G (PRSS23)
NR_120591.2:n.1443A>G (PRSS23)
NR_120592.2:n.1192A>G (PRSS23)
NM_012193.4:c.676T>C (FZD4) MANE Select NP_036325.2:p.Trp226Arg
NR_120591.3:n.1443A>G (PRSS23)
Search 100 bp 5'
Search 100 bp 3'