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: CA370942851
Gene: FZD3 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.28503022G>C , CM000670.2:g.28503022G>C GRCh38
NC_000008.10:g.28360539G>C , CM000670.1:g.28360539G>C GRCh37
NC_000008.9:g.28416458G>C NCBI36
NG_029723.1:g.13818G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000240093.8:c.9G>C MANE Select ENSP00000240093.3:p.Met3Ile
ENST00000240093.7:c.9G>C ENSP00000240093.3:p.Met3Ile
ENST00000523546.1:c.9G>C ENSP00000430125.1:p.Met3Ile
ENST00000537916.2:c.9G>C ENSP00000437489.1:p.Met3Ile
NM_017412.3:c.9G>C NP_059108.1:p.Met3Ile
NM_145866.1:c.9G>C NP_665873.1:p.Met3Ile
XM_011544648.1:c.9G>C XP_011542950.1:p.Met3Ile
XR_949476.1:n.528G>C
XR_949477.1:n.528G>C
XR_949478.1:n.528G>C
XM_017013842.1:c.9G>C XP_016869331.1:p.Met3Ile
XM_017013843.1:c.9G>C XP_016869332.1:p.Met3Ile
XM_017013844.1:c.9G>C XP_016869333.1:p.Met3Ile
XR_001745597.2:n.485G>C
XR_949476.2:n.528G>C
NM_017412.4:c.9G>C MANE Select NP_059108.1:p.Met3Ile
NM_145866.2:c.9G>C NP_665873.1:p.Met3Ile