Canonical Allele Identifier: CA6218316

Gene: FZD4 PRSS23

Linked Data

• ClinVar Variation Id: 2441596
• ClinVar RCV Id: RCV003143434
• dbSNP Id: rs759890542
• ExAC: 11:86662323 C / T
• gnomAD v2: 11-86662323-C-T
• gnomAD v3: 11-86951281-C-T
• gnomAD v4: 11-86951281-C-T
• MyVariant Identifiers: chr11:g.86662323C>T (hg19) ; chr11:g.86951281C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.86951281C>T , CM000673.2:g.86951281C>T	GRCh38
NC_000011.9:g.86662323C>T , CM000673.1:g.86662323C>T	GRCh37
NC_000011.8:g.86339971C>T	NCBI36
NG_011752.1:g.9111G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000531380.2:c.1475G>A (FZD4) MANE Select	ENSP00000434034.1:p.Gly492Asp
ENST00000528769.5:n.338C>T (PRSS23)
ENST00000531380.1:c.1475G>A (FZD4)	ENSP00000434034.1:p.Gly492Asp
ENST00000531521.1:n.452C>T (PRSS23)
ENST00000532234.5:c.*274C>T (PRSS23)	ENSP00000436676.1:n.*274C>T
ENST00000533902.2:c.272C>T (PRSS23)	ENSP00000437268.1:p.Ala91Val
NM_012193.3:c.1475G>A (FZD4)	NP_036325.2:p.Gly492Asp
NR_120591.1:n.946C>T (PRSS23)
NR_120592.1:n.695C>T (PRSS23)
NR_120591.2:n.644C>T (PRSS23)
NR_120592.2:n.393C>T (PRSS23)
NM_012193.4:c.1475G>A (FZD4) MANE Select	NP_036325.2:p.Gly492Asp
NR_120591.3:n.644C>T (PRSS23)