Canonical Allele Identifier: CA232846
Gene: FZD4 HGNC NCBI
ClinVar RCV:
RCV000132666
RCV000596583
RCV000988622
ClinVar Variation:
143141
dbSNP:
80358282
gnomAD v2:
11:86665923 G / A
gnomAD v3:
11:86954881 G / A
gnomAD v4:
chr11-86954881-G-A
Joint Max Group AF 0.00602749 (EAS)
Genomes Max Group AF 0.00241975 (EAS)
Exomes Max Group AF 0.00635223 (EAS)
MyVariant.info:
GRCh38 chr11:g.86954881G>A
GRCh37 chr11:g.86665923G>A
Revel Score:
ENST00000531380 (MANE Select) 0.663
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.86954881G>A , CM000673.2:g.86954881G>A GRCh38
NC_000011.9:g.86665923G>A , CM000673.1:g.86665923G>A GRCh37
NC_000011.8:g.86343571G>A NCBI36
NG_011752.1:g.5511C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000531380.2:c.205C>T MANE Select ENSP00000434034.1:p.His69Tyr
ENST00000531380.1:c.205C>T ENSP00000434034.1:p.His69Tyr
NM_012193.3:c.205C>T NP_036325.2:p.His69Tyr
NM_012193.4:c.205C>T MANE Select NP_036325.2:p.His69Tyr
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