Canonical Allele Identifier: CA117551
Gene: FZD4 HGNC NCBI
PRSS23 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.86951506C>T
GRCh37 chr11:g.86662548C>T
Revel Score:
ENST00000531380 (MANE Select) 0.933
gnomAD v2:
11:86662548 C / T
gnomAD v4:
chr11-86951506-C-T
Joint Max Group AF 6.8e-7 (NFE)
Exomes Max Group AF 7.2e-7 (NFE)
ClinVar RCV:
RCV000005820
RCV000005821
ClinVar Variation:
5486
dbSNP:
80358294
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.86951506C>T , CM000673.2:g.86951506C>T GRCh38
NC_000011.9:g.86662548C>T , CM000673.1:g.86662548C>T GRCh37
NC_000011.8:g.86340196C>T NCBI36
NG_011752.1:g.8886G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000531380.2:c.1250G>A (FZD4) MANE Select ENSP00000434034.1:p.Arg417Gln
ENST00000531380.1:c.1250G>A (FZD4) ENSP00000434034.1:p.Arg417Gln
ENST00000531521.1:n.677C>T (PRSS23)
ENST00000532234.5:c.*499C>T (PRSS23) ENSP00000436676.1:n.*499C>T
ENST00000533902.2:c.*221C>T (PRSS23) ENSP00000437268.1:n.*221C>T
NM_012193.3:c.1250G>A (FZD4) NP_036325.2:p.Arg417Gln
NR_120591.1:n.1171C>T (PRSS23)
NR_120592.1:n.920C>T (PRSS23)
NR_120591.2:n.869C>T (PRSS23)
NR_120592.2:n.618C>T (PRSS23)
NM_012193.4:c.1250G>A (FZD4) MANE Select NP_036325.2:p.Arg417Gln
NR_120591.3:n.869C>T (PRSS23)
Search 100 bp 5'
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