Canonical Allele Identifier: CA382016252

Linked Data

ClinVar Variation Id: 801000
ClinVar RCV Id: RCV000985230
dbSNP Id: rs1334686841

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.86952295T>C , CM000673.2:g.86952295T>C GRCh38
NC_000011.9:g.86663337T>C , CM000673.1:g.86663337T>C GRCh37
NC_000011.8:g.86340985T>C NCBI36
NG_011752.1:g.8097A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000531380.2:c.461A>G (FZD4) MANE Select ENSP00000434034.1:p.His154Arg
ENST00000531380.1:c.461A>G (FZD4) ENSP00000434034.1:p.His154Arg
ENST00000532234.5:c.*1288T>C (PRSS23) ENSP00000436676.1:n.*1288T>C
ENST00000533902.2:c.*1010T>C (PRSS23) ENSP00000437268.1:n.*1010T>C
NM_012193.3:c.461A>G (FZD4) NP_036325.2:p.His154Arg
NR_120591.1:n.1960T>C (PRSS23)
NR_120592.1:n.1709T>C (PRSS23)
NR_120591.2:n.1658T>C (PRSS23)
NR_120592.2:n.1407T>C (PRSS23)
NM_012193.4:c.461A>G (FZD4) MANE Select NP_036325.2:p.His154Arg
NR_120591.3:n.1658T>C (PRSS23)