Canonical Allele Identifier: CA6218350

Gene: FZD4 PRSS23

Linked Data

• dbSNP Id: rs772965455
• ExAC: 11:86662540 G / A
• gnomAD v2: 11-86662540-G-A
• gnomAD v4: 11-86951498-G-A
• MyVariant Identifiers: chr11:g.86662540G>A (hg19) ; chr11:g.86951498G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.86951498G>A , CM000673.2:g.86951498G>A	GRCh38
NC_000011.9:g.86662540G>A , CM000673.1:g.86662540G>A	GRCh37
NC_000011.8:g.86340188G>A	NCBI36
NG_011752.1:g.8894C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531380.2:c.1258C>T (FZD4) MANE Select	ENSP00000434034.1:p.Leu420Phe
ENST00000531380.1:c.1258C>T (FZD4)	ENSP00000434034.1:p.Leu420Phe
ENST00000531521.1:n.669G>A (PRSS23)
ENST00000532234.5:c.*491G>A (PRSS23)	ENSP00000436676.1:n.*491G>A
ENST00000533902.2:c.*213G>A (PRSS23)	ENSP00000437268.1:n.*213G>A
NM_012193.3:c.1258C>T (FZD4)	NP_036325.2:p.Leu420Phe
NR_120591.1:n.1163G>A (PRSS23)
NR_120592.1:n.912G>A (PRSS23)
NR_120591.2:n.861G>A (PRSS23)
NR_120592.2:n.610G>A (PRSS23)
NM_012193.4:c.1258C>T (FZD4) MANE Select	NP_036325.2:p.Leu420Phe
NR_120591.3:n.861G>A (PRSS23)