Canonical Allele Identifier: CA12923294
Gene: FZD3 HGNC NCBI
COSMIC:
COSN20393042 (not active)
MyVariant.info:
GRCh38 chr8:g.28557160C>T
GRCh37 chr8:g.28414677C>T
gnomAD v2:
8:28414677 C / T
gnomAD v3:
8:28557160 C / T
gnomAD v4:
chr8-28557160-C-T
Joint Max Group AF 0.6152142 (SAS)
Genomes Max Group AF 0.6152142 (SAS)
dbSNP:
880481
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.28557160C>T , CM000670.2:g.28557160C>T GRCh38
NC_000008.10:g.28414677C>T , CM000670.1:g.28414677C>T GRCh37
NC_000008.9:g.28470596C>T NCBI36
NG_029723.1:g.67956C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000240093.8:c.1787+1189C>T MANE Select ENSP00000240093.3:n.1787+1189C>T
ENST00000240093.7:c.1787+1189C>T ENSP00000240093.3:n.1787+1189C>T
ENST00000537916.2:c.1787+1189C>T ENSP00000437489.1:n.1787+1189C>T
NM_017412.3:c.1787+1189C>T NP_059108.1:n.1787+1189C>T
NM_145866.1:c.1787+1189C>T NP_665873.1:n.1787+1189C>T
XM_011544646.1:c.1670+1189C>T XP_011542948.1:n.1670+1189C>T
XM_011544647.1:c.1586+1189C>T XP_011542949.1:n.1586+1189C>T
XM_011544649.1:c.1586+1189C>T XP_011542951.1:n.1586+1189C>T
XR_949476.1:n.2358+1189C>T
XM_017013841.1:c.1586+1189C>T XP_016869330.1:n.1586+1189C>T
XR_001745597.2:n.2369+1189C>T
XR_949476.2:n.2358+1189C>T
NM_017412.4:c.1787+1189C>T MANE Select NP_059108.1:n.1787+1189C>T
NM_145866.2:c.1787+1189C>T NP_665873.1:n.1787+1189C>T
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