Canonical Allele Identifier: CA241622

Gene: FZD4 PRSS23

Linked Data

• ClinVar Variation Id: 195277
• ClinVar RCV Id: RCV000175839
• dbSNP Id: rs560649393
• ExAC: 11:86663069 G / A
• gnomAD v2: 11-86663069-G-A
• gnomAD v3: 11-86952027-G-A
• gnomAD v4: 11-86952027-G-A
• COSMIC: COSM1723999
• MyVariant Identifiers: chr11:g.86663069G>A (hg19) ; chr11:g.86952027G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.86952027G>A , CM000673.2:g.86952027G>A	GRCh38
NC_000011.9:g.86663069G>A , CM000673.1:g.86663069G>A	GRCh37
NC_000011.8:g.86340717G>A	NCBI36
NG_011752.1:g.8365C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000531380.2:c.729C>T (FZD4) MANE Select	ENSP00000434034.1:p.Ile243=
ENST00000531380.1:c.729C>T (FZD4)	ENSP00000434034.1:p.Ile243=
ENST00000532234.5:c.*1020G>A (PRSS23)	ENSP00000436676.1:n.*1020G>A
ENST00000533902.2:c.*742G>A (PRSS23)	ENSP00000437268.1:n.*742G>A
NM_012193.3:c.729C>T (FZD4)	NP_036325.2:p.Ile243=
NR_120591.1:n.1692G>A (PRSS23)
NR_120592.1:n.1441G>A (PRSS23)
NR_120591.2:n.1390G>A (PRSS23)
NR_120592.2:n.1139G>A (PRSS23)
NM_012193.4:c.729C>T (FZD4) MANE Select	NP_036325.2:p.Ile243=
NR_120591.3:n.1390G>A (PRSS23)