Canonical Allele Identifier: CA6218448

Gene: FZD4 PRSS23

Linked Data

• ClinVar Variation Id: 1941733
• ClinVar RCV Id: RCV002653642
• dbSNP Id: rs141978964
• ExAC: 11:86663277 G / A
• gnomAD v2: 11-86663277-G-A
• gnomAD v3: 11-86952235-G-A
• gnomAD v4: 11-86952235-G-A
• MyVariant Identifiers: chr11:g.86663277G>A (hg19) ; chr11:g.86952235G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.86952235G>A , CM000673.2:g.86952235G>A	GRCh38
NC_000011.9:g.86663277G>A , CM000673.1:g.86663277G>A	GRCh37
NC_000011.8:g.86340925G>A	NCBI36
NG_011752.1:g.8157C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000531380.2:c.521C>T (FZD4) MANE Select	ENSP00000434034.1:p.Pro174Leu
ENST00000531380.1:c.521C>T (FZD4)	ENSP00000434034.1:p.Pro174Leu
ENST00000532234.5:c.*1228G>A (PRSS23)	ENSP00000436676.1:n.*1228G>A
ENST00000533902.2:c.*950G>A (PRSS23)	ENSP00000437268.1:n.*950G>A
NM_012193.3:c.521C>T (FZD4)	NP_036325.2:p.Pro174Leu
NR_120591.1:n.1900G>A (PRSS23)
NR_120592.1:n.1649G>A (PRSS23)
NR_120591.2:n.1598G>A (PRSS23)
NR_120592.2:n.1347G>A (PRSS23)
NM_012193.4:c.521C>T (FZD4) MANE Select	NP_036325.2:p.Pro174Leu
NR_120591.3:n.1598G>A (PRSS23)