Canonical Allele Identifier: CA382011327
Gene: FZD4 HGNC NCBI
PRSS23 HGNC NCBI

Linked Data

ClinVar Variation Id: 2961077
ClinVar RCV Id: RCV003819788
dbSNP Id: rs1413356238
gnomAD v2: 11-86662383-G-A
gnomAD v3: 11-86951341-G-A
gnomAD v4: 11-86951341-G-A
MyVariant Identifiers: chr11:g.86662383G>A (hg19) chr11:g.86951341G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.86951341G>A , CM000673.2:g.86951341G>A GRCh38
NC_000011.9:g.86662383G>A , CM000673.1:g.86662383G>A GRCh37
NC_000011.8:g.86340031G>A NCBI36
NG_011752.1:g.9051C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000531380.2:c.1415C>T (FZD4) MANE Select ENSP00000434034.1:p.Ser472Phe
ENST00000528769.5:n.398G>A (PRSS23)
ENST00000531380.1:c.1415C>T (FZD4) ENSP00000434034.1:p.Ser472Phe
ENST00000531521.1:n.512G>A (PRSS23)
ENST00000532234.5:c.*334G>A (PRSS23) ENSP00000436676.1:n.*334G>A
ENST00000533902.2:c.*56G>A (PRSS23) ENSP00000437268.1:n.*56G>A
NM_012193.3:c.1415C>T (FZD4) NP_036325.2:p.Ser472Phe
NR_120591.1:n.1006G>A (PRSS23)
NR_120592.1:n.755G>A (PRSS23)
NR_120591.2:n.704G>A (PRSS23)
NR_120592.2:n.453G>A (PRSS23)
NM_012193.4:c.1415C>T (FZD4) MANE Select NP_036325.2:p.Ser472Phe
NR_120591.3:n.704G>A (PRSS23)
Search 100 bp 5'
Search 100 bp 3'