Canonical Allele Identifier: CA6218288
Gene: FZD4 HGNC NCBI
PRSS23 HGNC NCBI

Linked Data

ClinVar Variation Id: 306402
ClinVar RCV Id: RCV002248515
dbSNP Id: rs201256460
ExAC: 11:86662209 C / T
gnomAD v2: 11-86662209-C-T
gnomAD v3: 11-86951167-C-T
gnomAD v4: 11-86951167-C-T
MyVariant Identifiers: chr11:g.86662209C>T (hg19) chr11:g.86951167C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.86951167C>T , CM000673.2:g.86951167C>T GRCh38
NC_000011.9:g.86662209C>T , CM000673.1:g.86662209C>T GRCh37
NC_000011.8:g.86339857C>T NCBI36
NG_011752.1:g.9225G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000531380.2:c.1589G>A (FZD4) MANE Select ENSP00000434034.1:p.Gly530Glu
ENST00000528769.5:n.273-49C>T (PRSS23)
ENST00000531380.1:c.1589G>A (FZD4) ENSP00000434034.1:p.Gly530Glu
ENST00000531521.1:n.387-49C>T (PRSS23)
ENST00000532234.5:c.*209-49C>T (PRSS23) ENSP00000436676.1:n.*209-49C>T
ENST00000533902.2:c.207-49C>T (PRSS23) ENSP00000437268.1:n.207-49C>T
NM_012193.3:c.1589G>A (FZD4) NP_036325.2:p.Gly530Glu
NR_120591.1:n.881-49C>T (PRSS23)
NR_120592.1:n.630-49C>T (PRSS23)
NR_120591.2:n.579-49C>T (PRSS23)
NR_120592.2:n.328-49C>T (PRSS23)
NM_012193.4:c.1589G>A (FZD4) MANE Select NP_036325.2:p.Gly530Glu
NR_120591.3:n.579-49C>T (PRSS23)
Search 100 bp 5'
Search 100 bp 3'