Canonical Allele Identifier: CA382010868

Linked Data

ClinVar Variation Id: 2714002
ClinVar RCV Id: RCV003550693

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.86951183C>A , CM000673.2:g.86951183C>A GRCh38
NC_000011.9:g.86662225C>A , CM000673.1:g.86662225C>A GRCh37
NC_000011.8:g.86339873C>A NCBI36
NG_011752.1:g.9209G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000531380.2:c.1573G>T (FZD4) MANE Select ENSP00000434034.1:p.Gly525Cys
ENST00000528769.5:n.273-33C>A (PRSS23)
ENST00000531380.1:c.1573G>T (FZD4) ENSP00000434034.1:p.Gly525Cys
ENST00000531521.1:n.387-33C>A (PRSS23)
ENST00000532234.5:c.*209-33C>A (PRSS23) ENSP00000436676.1:n.*209-33C>A
ENST00000533902.2:c.207-33C>A (PRSS23) ENSP00000437268.1:n.207-33C>A
NM_012193.3:c.1573G>T (FZD4) NP_036325.2:p.Gly525Cys
NR_120591.1:n.881-33C>A (PRSS23)
NR_120592.1:n.630-33C>A (PRSS23)
NR_120591.2:n.579-33C>A (PRSS23)
NR_120592.2:n.328-33C>A (PRSS23)
NM_012193.4:c.1573G>T (FZD4) MANE Select NP_036325.2:p.Gly525Cys
NR_120591.3:n.579-33C>A (PRSS23)