Canonical Allele Identifier: CA382013782

Gene: FZD4 PRSS23

Linked Data

• ClinVar Variation Id: 2105426
• ClinVar RCV Id: RCV003014923
• MyVariant Identifiers: chr11:g.86662851C>G (hg19) ; chr11:g.86951809C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.86951809C>G , CM000673.2:g.86951809C>G	GRCh38
NC_000011.9:g.86662851C>G , CM000673.1:g.86662851C>G	GRCh37
NC_000011.8:g.86340499C>G	NCBI36
NG_011752.1:g.8583G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000531380.2:c.947G>C (FZD4) MANE Select	ENSP00000434034.1:p.Ser316Thr
ENST00000531380.1:c.947G>C (FZD4)	ENSP00000434034.1:p.Ser316Thr
ENST00000532234.5:c.*802C>G (PRSS23)	ENSP00000436676.1:n.*802C>G
ENST00000533902.2:c.*524C>G (PRSS23)	ENSP00000437268.1:n.*524C>G
NM_012193.3:c.947G>C (FZD4)	NP_036325.2:p.Ser316Thr
NR_120591.1:n.1474C>G (PRSS23)
NR_120592.1:n.1223C>G (PRSS23)
NR_120591.2:n.1172C>G (PRSS23)
NR_120592.2:n.921C>G (PRSS23)
NM_012193.4:c.947G>C (FZD4) MANE Select	NP_036325.2:p.Ser316Thr
NR_120591.3:n.1172C>G (PRSS23)