Canonical Allele Identifier: CA382016149

Linked Data

ClinVar Variation Id: 2846323
ClinVar RCV Id: RCV003687826

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.86952283C>A , CM000673.2:g.86952283C>A GRCh38
NC_000011.9:g.86663325C>A , CM000673.1:g.86663325C>A GRCh37
NC_000011.8:g.86340973C>A NCBI36
NG_011752.1:g.8109G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000531380.2:c.473G>T (FZD4) MANE Select ENSP00000434034.1:p.Cys158Phe
ENST00000531380.1:c.473G>T (FZD4) ENSP00000434034.1:p.Cys158Phe
ENST00000532234.5:c.*1276C>A (PRSS23) ENSP00000436676.1:n.*1276C>A
ENST00000533902.2:c.*998C>A (PRSS23) ENSP00000437268.1:n.*998C>A
NM_012193.3:c.473G>T (FZD4) NP_036325.2:p.Cys158Phe
NR_120591.1:n.1948C>A (PRSS23)
NR_120592.1:n.1697C>A (PRSS23)
NR_120591.2:n.1646C>A (PRSS23)
NR_120592.2:n.1395C>A (PRSS23)
NM_012193.4:c.473G>T (FZD4) MANE Select NP_036325.2:p.Cys158Phe
NR_120591.3:n.1646C>A (PRSS23)