Canonical Allele Identifier: CA382012948

Gene: FZD4 PRSS23

Linked Data

• ClinVar Variation Id: 1310693
• ClinVar RCV Id: RCV001767807
• dbSNP Id: rs2135040558
• MyVariant Identifiers: chr11:g.86662668C>T (hg19) ; chr11:g.86951626C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.86951626C>T , CM000673.2:g.86951626C>T	GRCh38
NC_000011.9:g.86662668C>T , CM000673.1:g.86662668C>T	GRCh37
NC_000011.8:g.86340316C>T	NCBI36
NG_011752.1:g.8766G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531380.2:c.1130G>A (FZD4) MANE Select	ENSP00000434034.1:p.Cys377Tyr
ENST00000531380.1:c.1130G>A (FZD4)	ENSP00000434034.1:p.Cys377Tyr
ENST00000531521.1:n.797C>T (PRSS23)
ENST00000532234.5:c.*619C>T (PRSS23)	ENSP00000436676.1:n.*619C>T
ENST00000533902.2:c.*341C>T (PRSS23)	ENSP00000437268.1:n.*341C>T
NM_012193.3:c.1130G>A (FZD4)	NP_036325.2:p.Cys377Tyr
NR_120591.1:n.1291C>T (PRSS23)
NR_120592.1:n.1040C>T (PRSS23)
NR_120591.2:n.989C>T (PRSS23)
NR_120592.2:n.738C>T (PRSS23)
NM_012193.4:c.1130G>A (FZD4) MANE Select	NP_036325.2:p.Cys377Tyr
NR_120591.3:n.989C>T (PRSS23)