Canonical Allele Identifier: CA382014725

Gene: FZD4 PRSS23

Linked Data

• ClinVar Variation Id: 930469
• ClinVar RCV Id: RCV001196145
• dbSNP Id: rs1949297471
• MyVariant Identifiers: chr11:g.86663080T>C (hg19) ; chr11:g.86952038T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.86952038T>C , CM000673.2:g.86952038T>C	GRCh38
NC_000011.9:g.86663080T>C , CM000673.1:g.86663080T>C	GRCh37
NC_000011.8:g.86340728T>C	NCBI36
NG_011752.1:g.8354A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531380.2:c.718A>G (FZD4) MANE Select	ENSP00000434034.1:p.Thr240Ala
ENST00000531380.1:c.718A>G (FZD4)	ENSP00000434034.1:p.Thr240Ala
ENST00000532234.5:c.*1031T>C (PRSS23)	ENSP00000436676.1:n.*1031T>C
ENST00000533902.2:c.*753T>C (PRSS23)	ENSP00000437268.1:n.*753T>C
NM_012193.3:c.718A>G (FZD4)	NP_036325.2:p.Thr240Ala
NR_120591.1:n.1703T>C (PRSS23)
NR_120592.1:n.1452T>C (PRSS23)
NR_120591.2:n.1401T>C (PRSS23)
NR_120592.2:n.1150T>C (PRSS23)
NM_012193.4:c.718A>G (FZD4) MANE Select	NP_036325.2:p.Thr240Ala
NR_120591.3:n.1401T>C (PRSS23)