Canonical Allele Identifier: CA382011105

Gene: FZD4 PRSS23

Linked Data

• dbSNP Id: rs749958709
• gnomAD v4: 11-86951278-A-T
• MyVariant Identifiers: chr11:g.86662320A>T (hg19) ; chr11:g.86951278A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.86951278A>T , CM000673.2:g.86951278A>T	GRCh38
NC_000011.9:g.86662320A>T , CM000673.1:g.86662320A>T	GRCh37
NC_000011.8:g.86339968A>T	NCBI36
NG_011752.1:g.9114T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000531380.2:c.1478T>A (FZD4) MANE Select	ENSP00000434034.1:p.Met493Lys
ENST00000528769.5:n.335A>T (PRSS23)
ENST00000531380.1:c.1478T>A (FZD4)	ENSP00000434034.1:p.Met493Lys
ENST00000531521.1:n.449A>T (PRSS23)
ENST00000532234.5:c.*271A>T (PRSS23)	ENSP00000436676.1:n.*271A>T
ENST00000533902.2:c.269A>T (PRSS23)	ENSP00000437268.1:p.His90Leu
NM_012193.3:c.1478T>A (FZD4)	NP_036325.2:p.Met493Lys
NR_120591.1:n.943A>T (PRSS23)
NR_120592.1:n.692A>T (PRSS23)
NR_120591.2:n.641A>T (PRSS23)
NR_120592.2:n.390A>T (PRSS23)
NM_012193.4:c.1478T>A (FZD4) MANE Select	NP_036325.2:p.Met493Lys
NR_120591.3:n.641A>T (PRSS23)