Canonical Allele Identifier: CA225383283
Gene: FZD4 HGNC NCBI
ClinVar RCV:
RCV003058345
ClinVar Variation:
2137216
dbSNP:
80358281
gnomAD v3:
11:86954979 C / T
gnomAD v4:
chr11-86954979-C-T
Joint Max Group AF 0.00000292 (NFE)
Exomes Max Group AF 0.00000262 (NFE)
MyVariant.info:
GRCh38 chr11:g.86954979C>T
GRCh37 chr11:g.86666021C>T
Revel Score:
ENST00000531380 (MANE Select) 0.374
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.86954979C>T , CM000673.2:g.86954979C>T GRCh38
NC_000011.9:g.86666021C>T , CM000673.1:g.86666021C>T GRCh37
NC_000011.8:g.86343669C>T NCBI36
NG_011752.1:g.5413G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000531380.2:c.107G>A MANE Select ENSP00000434034.1:p.Gly36Asp
ENST00000531380.1:c.107G>A ENSP00000434034.1:p.Gly36Asp
NM_012193.3:c.107G>A NP_036325.2:p.Gly36Asp
NM_012193.4:c.107G>A MANE Select NP_036325.2:p.Gly36Asp
Search 100 bp 5'
Search 100 bp 3'