Canonical Allele Identifier: CA225381449

Gene: FZD4 PRSS23

Linked Data

• ClinVar Variation Id: 1500850
• ClinVar RCV Id: RCV002015966
• dbSNP Id: rs145072875
• gnomAD v4: 11-86952199-G-T
• MyVariant Identifiers: chr11:g.86663241G>T (hg19) ; chr11:g.86952199G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.86952199G>T , CM000673.2:g.86952199G>T	GRCh38
NC_000011.9:g.86663241G>T , CM000673.1:g.86663241G>T	GRCh37
NC_000011.8:g.86340889G>T	NCBI36
NG_011752.1:g.8193C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000531380.2:c.557C>A (FZD4) MANE Select	ENSP00000434034.1:p.Thr186Asn
ENST00000531380.1:c.557C>A (FZD4)	ENSP00000434034.1:p.Thr186Asn
ENST00000532234.5:c.*1192G>T (PRSS23)	ENSP00000436676.1:n.*1192G>T
ENST00000533902.2:c.*914G>T (PRSS23)	ENSP00000437268.1:n.*914G>T
NM_012193.3:c.557C>A (FZD4)	NP_036325.2:p.Thr186Asn
NR_120591.1:n.1864G>T (PRSS23)
NR_120592.1:n.1613G>T (PRSS23)
NR_120591.2:n.1562G>T (PRSS23)
NR_120592.2:n.1311G>T (PRSS23)
NM_012193.4:c.557C>A (FZD4) MANE Select	NP_036325.2:p.Thr186Asn
NR_120591.3:n.1562G>T (PRSS23)