Canonical Allele Identifier: CA225381314

Linked Data

ClinVar Variation Id: 940196
ClinVar RCV Id: RCV001209731
dbSNP Id: rs80358289

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.86952078C>T , CM000673.2:g.86952078C>T GRCh38
NC_000011.9:g.86663120C>T , CM000673.1:g.86663120C>T GRCh37
NC_000011.8:g.86340768C>T NCBI36
NG_011752.1:g.8314G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000531380.2:c.678G>A (FZD4) MANE Select ENSP00000434034.1:p.Trp226Ter
ENST00000531380.1:c.678G>A (FZD4) ENSP00000434034.1:p.Trp226Ter
ENST00000532234.5:c.*1071C>T (PRSS23) ENSP00000436676.1:n.*1071C>T
ENST00000533902.2:c.*793C>T (PRSS23) ENSP00000437268.1:n.*793C>T
NM_012193.3:c.678G>A (FZD4) NP_036325.2:p.Trp226Ter
NR_120591.1:n.1743C>T (PRSS23)
NR_120592.1:n.1492C>T (PRSS23)
NR_120591.2:n.1441C>T (PRSS23)
NR_120592.2:n.1190C>T (PRSS23)
NM_012193.4:c.678G>A (FZD4) MANE Select NP_036325.2:p.Trp226Ter
NR_120591.3:n.1441C>T (PRSS23)