Canonical Allele Identifier: CA382011017

Gene: FZD4 PRSS23

Linked Data

• ClinVar Variation Id: 2730480
• ClinVar RCV Id: RCV003579730
• MyVariant Identifiers: chr11:g.86662287C>T (hg19) ; chr11:g.86951245C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.86951245C>T , CM000673.2:g.86951245C>T	GRCh38
NC_000011.9:g.86662287C>T , CM000673.1:g.86662287C>T	GRCh37
NC_000011.8:g.86339935C>T	NCBI36
NG_011752.1:g.9147G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000531380.2:c.1511G>A (FZD4) MANE Select	ENSP00000434034.1:p.Trp504Ter
ENST00000528769.5:n.302C>T (PRSS23)
ENST00000531380.1:c.1511G>A (FZD4)	ENSP00000434034.1:p.Trp504Ter
ENST00000531521.1:n.416C>T (PRSS23)
ENST00000532234.5:c.*238C>T (PRSS23)	ENSP00000436676.1:n.*238C>T
ENST00000533902.2:c.236C>T (PRSS23)	ENSP00000437268.1:p.Pro79Leu
NM_012193.3:c.1511G>A (FZD4)	NP_036325.2:p.Trp504Ter
NR_120591.1:n.910C>T (PRSS23)
NR_120592.1:n.659C>T (PRSS23)
NR_120591.2:n.608C>T (PRSS23)
NR_120592.2:n.357C>T (PRSS23)
NM_012193.4:c.1511G>A (FZD4) MANE Select	NP_036325.2:p.Trp504Ter
NR_120591.3:n.608C>T (PRSS23)