Canonical Allele Identifier: CA6218292

Gene: FZD4 PRSS23

Linked Data

• ClinVar Variation Id: 2174974
• ClinVar RCV Id: RCV002588293
• dbSNP Id: rs146277634
• ExAC: 11:86662219 C / A
• gnomAD v2: 11-86662219-C-A
• gnomAD v3: 11-86951177-C-A
• gnomAD v4: 11-86951177-C-A
• MyVariant Identifiers: chr11:g.86662219C>A (hg19) ; chr11:g.86951177C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.86951177C>A , CM000673.2:g.86951177C>A	GRCh38
NC_000011.9:g.86662219C>A , CM000673.1:g.86662219C>A	GRCh37
NC_000011.8:g.86339867C>A	NCBI36
NG_011752.1:g.9215G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000531380.2:c.1579G>T (FZD4) MANE Select	ENSP00000434034.1:p.Val527Leu
ENST00000528769.5:n.273-39C>A (PRSS23)
ENST00000531380.1:c.1579G>T (FZD4)	ENSP00000434034.1:p.Val527Leu
ENST00000531521.1:n.387-39C>A (PRSS23)
ENST00000532234.5:c.*209-39C>A (PRSS23)	ENSP00000436676.1:n.*209-39C>A
ENST00000533902.2:c.207-39C>A (PRSS23)	ENSP00000437268.1:n.207-39C>A
NM_012193.3:c.1579G>T (FZD4)	NP_036325.2:p.Val527Leu
NR_120591.1:n.881-39C>A (PRSS23)
NR_120592.1:n.630-39C>A (PRSS23)
NR_120591.2:n.579-39C>A (PRSS23)
NR_120592.2:n.328-39C>A (PRSS23)
NM_012193.4:c.1579G>T (FZD4) MANE Select	NP_036325.2:p.Val527Leu
NR_120591.3:n.579-39C>A (PRSS23)