Canonical Allele Identifier: CA225381309

Gene: FZD4 PRSS23

Linked Data

• ClinVar Variation Id: 2101988
• ClinVar RCV Id: RCV003017180
• dbSNP Id: rs368364243
• gnomAD v2: 11-86663099-G-C
• gnomAD v3: 11-86952057-G-C
• gnomAD v4: 11-86952057-G-C
• MyVariant Identifiers: chr11:g.86663099G>C (hg19) ; chr11:g.86952057G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.86952057G>C , CM000673.2:g.86952057G>C	GRCh38
NC_000011.9:g.86663099G>C , CM000673.1:g.86663099G>C	GRCh37
NC_000011.8:g.86340747G>C	NCBI36
NG_011752.1:g.8335C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000531380.2:c.699C>G (FZD4) MANE Select	ENSP00000434034.1:p.Ser233=
ENST00000531380.1:c.699C>G (FZD4)	ENSP00000434034.1:p.Ser233=
ENST00000532234.5:c.*1050G>C (PRSS23)	ENSP00000436676.1:n.*1050G>C
ENST00000533902.2:c.*772G>C (PRSS23)	ENSP00000437268.1:n.*772G>C
NM_012193.3:c.699C>G (FZD4)	NP_036325.2:p.Ser233=
NR_120591.1:n.1722G>C (PRSS23)
NR_120592.1:n.1471G>C (PRSS23)
NR_120591.2:n.1420G>C (PRSS23)
NR_120592.2:n.1169G>C (PRSS23)
NM_012193.4:c.699C>G (FZD4) MANE Select	NP_036325.2:p.Ser233=
NR_120591.3:n.1420G>C (PRSS23)