Canonical Allele Identifier: CA16619414

Linked Data

ClinVar Variation Id: 419719
ClinVar RCV Id: RCV000478908
dbSNP Id: rs1064794064

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.86952145C>T , CM000673.2:g.86952145C>T GRCh38
NC_000011.9:g.86663187C>T , CM000673.1:g.86663187C>T GRCh37
NC_000011.8:g.86340835C>T NCBI36
NG_011752.1:g.8247G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000531380.2:c.611G>A (FZD4) MANE Select ENSP00000434034.1:p.Cys204Tyr
ENST00000531380.1:c.611G>A (FZD4) ENSP00000434034.1:p.Cys204Tyr
ENST00000532234.5:c.*1138C>T (PRSS23) ENSP00000436676.1:n.*1138C>T
ENST00000533902.2:c.*860C>T (PRSS23) ENSP00000437268.1:n.*860C>T
NM_012193.3:c.611G>A (FZD4) NP_036325.2:p.Cys204Tyr
NR_120591.1:n.1810C>T (PRSS23)
NR_120592.1:n.1559C>T (PRSS23)
NR_120591.2:n.1508C>T (PRSS23)
NR_120592.2:n.1257C>T (PRSS23)
NM_012193.4:c.611G>A (FZD4) MANE Select NP_036325.2:p.Cys204Tyr
NR_120591.3:n.1508C>T (PRSS23)