Canonical Allele Identifier: CA225379986

Gene: FZD4 PRSS23

Linked Data

• ClinVar Variation Id: 880746
• ClinVar RCV Id: RCV001109248
• dbSNP Id: rs530994733
• gnomAD v2: 11-86662056-C-T
• gnomAD v3: 11-86951014-C-T
• gnomAD v4: 11-86951014-C-T
• MyVariant Identifiers: chr11:g.86662056C>T (hg19) ; chr11:g.86951014C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.86951014C>T , CM000673.2:g.86951014C>T	GRCh38
NC_000011.9:g.86662056C>T , CM000673.1:g.86662056C>T	GRCh37
NC_000011.8:g.86339704C>T	NCBI36
NG_011752.1:g.9378G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531380.2:c.*128G>A (FZD4) MANE Select	ENSP00000434034.1:n.*128G>A
ENST00000528769.5:n.273-202C>T (PRSS23)
ENST00000531380.1:c.*128G>A (FZD4)	ENSP00000434034.1:n.*128G>A
ENST00000531521.1:n.387-202C>T (PRSS23)
ENST00000532234.5:c.*209-202C>T (PRSS23)	ENSP00000436676.1:n.*209-202C>T
ENST00000533902.2:c.207-202C>T (PRSS23)	ENSP00000437268.1:n.207-202C>T
NM_012193.3:c.*128G>A (FZD4)	NP_036325.2:n.*128G>A
NR_120591.1:n.881-202C>T (PRSS23)
NR_120592.1:n.630-202C>T (PRSS23)
NR_120591.2:n.579-202C>T (PRSS23)
NR_120592.2:n.328-202C>T (PRSS23)
NM_012193.4:c.*128G>A (FZD4) MANE Select	NP_036325.2:n.*128G>A
NR_120591.3:n.579-202C>T (PRSS23)