This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
Canonical Allele Identifier: CA370943147
Gene: FZD3 HGNC NCBI
ClinVar RCV:
ClinVar Variation:
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.28503150T>C , CM000670.2:g.28503150T>C GRCh38
NC_000008.10:g.28360667T>C , CM000670.1:g.28360667T>C GRCh37
NC_000008.9:g.28416586T>C NCBI36
NG_029723.1:g.13946T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000240093.8:c.137T>C MANE Select ENSP00000240093.3:p.Met46Thr
ENST00000240093.7:c.137T>C ENSP00000240093.3:p.Met46Thr
ENST00000537916.2:c.137T>C ENSP00000437489.1:p.Met46Thr
NM_017412.3:c.137T>C NP_059108.1:p.Met46Thr
NM_145866.1:c.137T>C NP_665873.1:p.Met46Thr
XM_011544648.1:c.137T>C XP_011542950.1:p.Met46Thr
XR_949476.1:n.656T>C
XR_949477.1:n.656T>C
XR_949478.1:n.656T>C
XM_017013842.1:c.137T>C XP_016869331.1:p.Met46Thr
XM_017013843.1:c.137T>C XP_016869332.1:p.Met46Thr
XM_017013844.1:c.137T>C XP_016869333.1:p.Met46Thr
XR_001745597.2:n.613T>C
XR_949476.2:n.656T>C
NM_017412.4:c.137T>C MANE Select NP_059108.1:p.Met46Thr
NM_145866.2:c.137T>C NP_665873.1:p.Met46Thr