Canonical Allele Identifier: CA350086618
Gene: FZD5 HGNC NCBI
ClinVar RCV:
RCV003558980
ClinVar Variation:
2722594
gnomAD v4:
chr2-207767931-G-C
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
MyVariant.info:
GRCh38 chr2:g.207767931G>C
GRCh37 chr2:g.208632655G>C
Revel Score:
ENST00000295417 (MANE Select) 0.880
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.207767931G>C , CM000664.2:g.207767931G>C GRCh38
NC_000002.11:g.208632655G>C , CM000664.1:g.208632655G>C GRCh37
NC_000002.10:g.208340900G>C NCBI36
NG_050642.1:g.6489C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000295417.4:c.809C>G MANE Select ENSP00000354607.3:p.Pro270Arg
ENST00000295417.3:c.809C>G ENSP00000354607.3:p.Pro270Arg
NM_003468.3:c.809C>G NP_003459.2:p.Pro270Arg
XM_024453130.1:c.809C>G XP_024308898.1:p.Pro270Arg
NM_003468.4:c.809C>G MANE Select NP_003459.2:p.Pro270Arg
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