Canonical Allele Identifier: CA6218467

Gene: FZD4 PRSS23

Linked Data

• dbSNP Id: rs779257431
• ExAC: 11:86663429 T / A
• gnomAD v2: 11-86663429-T-A
• gnomAD v4: 11-86952387-T-A
• MyVariant Identifiers: chr11:g.86663429T>A (hg19) ; chr11:g.86952387T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.86952387T>A , CM000673.2:g.86952387T>A	GRCh38
NC_000011.9:g.86663429T>A , CM000673.1:g.86663429T>A	GRCh37
NC_000011.8:g.86341077T>A	NCBI36
NG_011752.1:g.8005A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531380.2:c.369A>T (FZD4) MANE Select	ENSP00000434034.1:p.Ser123=
ENST00000531380.1:c.369A>T (FZD4)	ENSP00000434034.1:p.Ser123=
ENST00000532234.5:c.*1380T>A (PRSS23)	ENSP00000436676.1:n.*1380T>A
ENST00000533902.2:c.*1102T>A (PRSS23)	ENSP00000437268.1:n.*1102T>A
NM_012193.3:c.369A>T (FZD4)	NP_036325.2:p.Ser123=
NR_120591.1:n.2052T>A (PRSS23)
NR_120592.1:n.1801T>A (PRSS23)
NR_120591.2:n.1750T>A (PRSS23)
NR_120592.2:n.1499T>A (PRSS23)
NM_012193.4:c.369A>T (FZD4) MANE Select	NP_036325.2:p.Ser123=
NR_120591.3:n.1750T>A (PRSS23)