Canonical Allele Identifier: CA6218469
Gene: FZD4 HGNC NCBI
PRSS23 HGNC NCBI

Linked Data

ClinVar Variation Id: 1021075
ClinVar RCV Id: RCV001320766
dbSNP Id: rs748190939
ExAC: 11:86663439 A / T
gnomAD v2: 11-86663439-A-T
gnomAD v4: 11-86952397-A-T
COSMIC: COSM5947191
MyVariant Identifiers: chr11:g.86663439A>T (hg19) chr11:g.86952397A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.86952397A>T , CM000673.2:g.86952397A>T GRCh38
NC_000011.9:g.86663439A>T , CM000673.1:g.86663439A>T GRCh37
NC_000011.8:g.86341087A>T NCBI36
NG_011752.1:g.7995T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000531380.2:c.359T>A (FZD4) MANE Select ENSP00000434034.1:p.Met120Lys
ENST00000531380.1:c.359T>A (FZD4) ENSP00000434034.1:p.Met120Lys
ENST00000532234.5:c.*1390A>T (PRSS23) ENSP00000436676.1:n.*1390A>T
ENST00000533902.2:c.*1112A>T (PRSS23) ENSP00000437268.1:n.*1112A>T
NM_012193.3:c.359T>A (FZD4) NP_036325.2:p.Met120Lys
NR_120591.1:n.2062A>T (PRSS23)
NR_120592.1:n.1811A>T (PRSS23)
NR_120591.2:n.1760A>T (PRSS23)
NR_120592.2:n.1509A>T (PRSS23)
NM_012193.4:c.359T>A (FZD4) MANE Select NP_036325.2:p.Met120Lys
NR_120591.3:n.1760A>T (PRSS23)
Search 100 bp 5'
Search 100 bp 3'