Canonical Allele Identifier: CA225380426

Gene: FZD4 PRSS23

Linked Data

• ClinVar Variation Id: 986930
• ClinVar RCV Id: RCV001268102
• dbSNP Id: rs80358299
• COSMIC: COSM1676361
• MyVariant Identifiers: chr11:g.86662324C>G (hg19) ; chr11:g.86951282C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.86951282C>G , CM000673.2:g.86951282C>G	GRCh38
NC_000011.9:g.86662324C>G , CM000673.1:g.86662324C>G	GRCh37
NC_000011.8:g.86339972C>G	NCBI36
NG_011752.1:g.9110G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000531380.2:c.1474G>C (FZD4) MANE Select	ENSP00000434034.1:p.Gly492Arg
ENST00000528769.5:n.339C>G (PRSS23)
ENST00000531380.1:c.1474G>C (FZD4)	ENSP00000434034.1:p.Gly492Arg
ENST00000531521.1:n.453C>G (PRSS23)
ENST00000532234.5:c.*275C>G (PRSS23)	ENSP00000436676.1:n.*275C>G
ENST00000533902.2:c.273C>G (PRSS23)	ENSP00000437268.1:p.Ala91=
NM_012193.3:c.1474G>C (FZD4)	NP_036325.2:p.Gly492Arg
NR_120591.1:n.947C>G (PRSS23)
NR_120592.1:n.696C>G (PRSS23)
NR_120591.2:n.645C>G (PRSS23)
NR_120592.2:n.394C>G (PRSS23)
NM_012193.4:c.1474G>C (FZD4) MANE Select	NP_036325.2:p.Gly492Arg
NR_120591.3:n.645C>G (PRSS23)