Canonical Allele Identifier: CA351365

Linked Data

ClinVar Variation Id: 224624
dbSNP Id: rs80358284

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.86952443T>C , CM000673.2:g.86952443T>C GRCh38
NC_000011.9:g.86663485T>C , CM000673.1:g.86663485T>C GRCh37
NC_000011.8:g.86341133T>C NCBI36
NG_011752.1:g.7949A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000531380.2:c.313A>G (FZD4) MANE Select ENSP00000434034.1:p.Met105Val
ENST00000531380.1:c.313A>G (FZD4) ENSP00000434034.1:p.Met105Val
ENST00000532234.5:c.*1436T>C (PRSS23) ENSP00000436676.1:n.*1436T>C
ENST00000533902.2:c.*1158T>C (PRSS23) ENSP00000437268.1:n.*1158T>C
NM_012193.3:c.313A>G (FZD4) NP_036325.2:p.Met105Val
NR_120591.1:n.2108T>C (PRSS23)
NR_120592.1:n.1857T>C (PRSS23)
NR_120591.2:n.1806T>C (PRSS23)
NR_120592.2:n.1555T>C (PRSS23)
NM_012193.4:c.313A>G (FZD4) MANE Select NP_036325.2:p.Met105Val
NR_120591.3:n.1806T>C (PRSS23)