Canonical Allele Identifier: CA6218342

Gene: FZD4 PRSS23

Linked Data

• dbSNP Id: rs750457541
• ExAC: 11:86662472 T / C
• gnomAD v2: 11-86662472-T-C
• MyVariant Identifiers: chr11:g.86662472T>C (hg19) ; chr11:g.86951430T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.86951430T>C , CM000673.2:g.86951430T>C	GRCh38
NC_000011.9:g.86662472T>C , CM000673.1:g.86662472T>C	GRCh37
NC_000011.8:g.86340120T>C	NCBI36
NG_011752.1:g.8962A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000531380.2:c.1326A>G (FZD4) MANE Select	ENSP00000434034.1:p.Val442=
ENST00000531380.1:c.1326A>G (FZD4)	ENSP00000434034.1:p.Val442=
ENST00000531521.1:n.601T>C (PRSS23)
ENST00000532234.5:c.*423T>C (PRSS23)	ENSP00000436676.1:n.*423T>C
ENST00000533902.2:c.*145T>C (PRSS23)	ENSP00000437268.1:n.*145T>C
NM_012193.3:c.1326A>G (FZD4)	NP_036325.2:p.Val442=
NR_120591.1:n.1095T>C (PRSS23)
NR_120592.1:n.844T>C (PRSS23)
NR_120591.2:n.793T>C (PRSS23)
NR_120592.2:n.542T>C (PRSS23)
NM_012193.4:c.1326A>G (FZD4) MANE Select	NP_036325.2:p.Val442=
NR_120591.3:n.793T>C (PRSS23)