Canonical Allele Identifier: CA382014142
Gene: FZD4 HGNC NCBI
PRSS23 HGNC NCBI

Linked Data

ClinVar Variation Id: 2478249
ClinVar RCV Id: RCV003209265
gnomAD v4: 11-86951936-T-G
MyVariant Identifiers: chr11:g.86662978T>G (hg19) chr11:g.86951936T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.86951936T>G , CM000673.2:g.86951936T>G GRCh38
NC_000011.9:g.86662978T>G , CM000673.1:g.86662978T>G GRCh37
NC_000011.8:g.86340626T>G NCBI36
NG_011752.1:g.8456A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000531380.2:c.820A>C (FZD4) MANE Select ENSP00000434034.1:p.Thr274Pro
ENST00000531380.1:c.820A>C (FZD4) ENSP00000434034.1:p.Thr274Pro
ENST00000532234.5:c.*929T>G (PRSS23) ENSP00000436676.1:n.*929T>G
ENST00000533902.2:c.*651T>G (PRSS23) ENSP00000437268.1:n.*651T>G
NM_012193.3:c.820A>C (FZD4) NP_036325.2:p.Thr274Pro
NR_120591.1:n.1601T>G (PRSS23)
NR_120592.1:n.1350T>G (PRSS23)
NR_120591.2:n.1299T>G (PRSS23)
NR_120592.2:n.1048T>G (PRSS23)
NM_012193.4:c.820A>C (FZD4) MANE Select NP_036325.2:p.Thr274Pro
NR_120591.3:n.1299T>G (PRSS23)
Search 100 bp 5'
Search 100 bp 3'