Canonical Allele Identifier: CA225381158
Gene: FZD4 HGNC NCBI
PRSS23 HGNC NCBI

Linked Data

ClinVar Variation Id: 2062822
ClinVar RCV Id: RCV002958033
dbSNP Id: rs148970041
gnomAD v2: 11-86662968-C-T
gnomAD v4: 11-86951926-C-T
MyVariant Identifiers: chr11:g.86662968C>T (hg19) chr11:g.86951926C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.86951926C>T , CM000673.2:g.86951926C>T GRCh38
NC_000011.9:g.86662968C>T , CM000673.1:g.86662968C>T GRCh37
NC_000011.8:g.86340616C>T NCBI36
NG_011752.1:g.8466G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000531380.2:c.830G>A (FZD4) MANE Select ENSP00000434034.1:p.Arg277Gln
ENST00000531380.1:c.830G>A (FZD4) ENSP00000434034.1:p.Arg277Gln
ENST00000532234.5:c.*919C>T (PRSS23) ENSP00000436676.1:n.*919C>T
ENST00000533902.2:c.*641C>T (PRSS23) ENSP00000437268.1:n.*641C>T
NM_012193.3:c.830G>A (FZD4) NP_036325.2:p.Arg277Gln
NR_120591.1:n.1591C>T (PRSS23)
NR_120592.1:n.1340C>T (PRSS23)
NR_120591.2:n.1289C>T (PRSS23)
NR_120592.2:n.1038C>T (PRSS23)
NM_012193.4:c.830G>A (FZD4) MANE Select NP_036325.2:p.Arg277Gln
NR_120591.3:n.1289C>T (PRSS23)
Search 100 bp 5'
Search 100 bp 3'