Canonical Allele Identifier: CA382011029

Gene: FZD4 PRSS23

Linked Data

• ClinVar Variation Id: 1966219
• ClinVar RCV Id: RCV002716403
• MyVariant Identifiers: chr11:g.86662293T>G (hg19) ; chr11:g.86951251T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.86951251T>G , CM000673.2:g.86951251T>G	GRCh38
NC_000011.9:g.86662293T>G , CM000673.1:g.86662293T>G	GRCh37
NC_000011.8:g.86339941T>G	NCBI36
NG_011752.1:g.9141A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000531380.2:c.1505A>C (FZD4) MANE Select	ENSP00000434034.1:p.His502Pro
ENST00000528769.5:n.308T>G (PRSS23)
ENST00000531380.1:c.1505A>C (FZD4)	ENSP00000434034.1:p.His502Pro
ENST00000531521.1:n.422T>G (PRSS23)
ENST00000532234.5:c.*244T>G (PRSS23)	ENSP00000436676.1:n.*244T>G
ENST00000533902.2:c.242T>G (PRSS23)	ENSP00000437268.1:p.Val81Gly
NM_012193.3:c.1505A>C (FZD4)	NP_036325.2:p.His502Pro
NR_120591.1:n.916T>G (PRSS23)
NR_120592.1:n.665T>G (PRSS23)
NR_120591.2:n.614T>G (PRSS23)
NR_120592.2:n.363T>G (PRSS23)
NM_012193.4:c.1505A>C (FZD4) MANE Select	NP_036325.2:p.His502Pro
NR_120591.3:n.614T>G (PRSS23)