Canonical Allele Identifier: CA382014836

Gene: FZD4 PRSS23

Linked Data

• dbSNP Id: rs1003766881
• gnomAD v2: 11-86663104-T-A
• gnomAD v3: 11-86952062-T-A
• gnomAD v4: 11-86952062-T-A
• MyVariant Identifiers: chr11:g.86663104T>A (hg19) ; chr11:g.86952062T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.86952062T>A , CM000673.2:g.86952062T>A	GRCh38
NC_000011.9:g.86663104T>A , CM000673.1:g.86663104T>A	GRCh37
NC_000011.8:g.86340752T>A	NCBI36
NG_011752.1:g.8330A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531380.2:c.694A>T (FZD4) MANE Select	ENSP00000434034.1:p.Ile232Phe
ENST00000531380.1:c.694A>T (FZD4)	ENSP00000434034.1:p.Ile232Phe
ENST00000532234.5:c.*1055T>A (PRSS23)	ENSP00000436676.1:n.*1055T>A
ENST00000533902.2:c.*777T>A (PRSS23)	ENSP00000437268.1:n.*777T>A
NM_012193.3:c.694A>T (FZD4)	NP_036325.2:p.Ile232Phe
NR_120591.1:n.1727T>A (PRSS23)
NR_120592.1:n.1476T>A (PRSS23)
NR_120591.2:n.1425T>A (PRSS23)
NR_120592.2:n.1174T>A (PRSS23)
NM_012193.4:c.694A>T (FZD4) MANE Select	NP_036325.2:p.Ile232Phe
NR_120591.3:n.1425T>A (PRSS23)