Canonical Allele Identifier: CA382010913

Gene: FZD4 PRSS23

Linked Data

• ClinVar Variation Id: 1358989
• ClinVar RCV Id: RCV001864218
• dbSNP Id: rs1329129995
• MyVariant Identifiers: chr11:g.86662246T>G (hg19) ; chr11:g.86951204T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.86951204T>G , CM000673.2:g.86951204T>G	GRCh38
NC_000011.9:g.86662246T>G , CM000673.1:g.86662246T>G	GRCh37
NC_000011.8:g.86339894T>G	NCBI36
NG_011752.1:g.9188A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531380.2:c.1552A>C (FZD4) MANE Select	ENSP00000434034.1:p.Lys518Gln
ENST00000528769.5:n.273-12T>G (PRSS23)
ENST00000531380.1:c.1552A>C (FZD4)	ENSP00000434034.1:p.Lys518Gln
ENST00000531521.1:n.387-12T>G (PRSS23)
ENST00000532234.5:c.*209-12T>G (PRSS23)	ENSP00000436676.1:n.*209-12T>G
ENST00000533902.2:c.207-12T>G (PRSS23)	ENSP00000437268.1:n.207-12T>G
NM_012193.3:c.1552A>C (FZD4)	NP_036325.2:p.Lys518Gln
NR_120591.1:n.881-12T>G (PRSS23)
NR_120592.1:n.630-12T>G (PRSS23)
NR_120591.2:n.579-12T>G (PRSS23)
NR_120592.2:n.328-12T>G (PRSS23)
NM_012193.4:c.1552A>C (FZD4) MANE Select	NP_036325.2:p.Lys518Gln
NR_120591.3:n.579-12T>G (PRSS23)