Canonical Allele Identifier: CA476144532
Gene: FZD4 HGNC NCBI
PRSS23 HGNC NCBI

Linked Data

ClinVar Variation Id: 1351412
ClinVar RCV Id: RCV002044707
dbSNP Id: rs1253650858
gnomAD v2: 11-86662970-G-A
gnomAD v3: 11-86951928-G-A
gnomAD v4: 11-86951928-G-A
MyVariant Identifiers: chr11:g.86662970G>A (hg19) chr11:g.86951928G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.86951928G>A , CM000673.2:g.86951928G>A GRCh38
NC_000011.9:g.86662970G>A , CM000673.1:g.86662970G>A GRCh37
NC_000011.8:g.86340618G>A NCBI36
NG_011752.1:g.8464C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000531380.2:c.828C>T (FZD4) MANE Select ENSP00000434034.1:p.Gly276=
ENST00000531380.1:c.828C>T (FZD4) ENSP00000434034.1:p.Gly276=
ENST00000532234.5:c.*921G>A (PRSS23) ENSP00000436676.1:n.*921G>A
ENST00000533902.2:c.*643G>A (PRSS23) ENSP00000437268.1:n.*643G>A
NM_012193.3:c.828C>T (FZD4) NP_036325.2:p.Gly276=
NR_120591.1:n.1593G>A (PRSS23)
NR_120592.1:n.1342G>A (PRSS23)
NR_120591.2:n.1291G>A (PRSS23)
NR_120592.2:n.1040G>A (PRSS23)
NM_012193.4:c.828C>T (FZD4) MANE Select NP_036325.2:p.Gly276=
NR_120591.3:n.1291G>A (PRSS23)
Search 100 bp 5'
Search 100 bp 3'