Canonical Allele Identifier: CA200814
Gene: CDH3 HGNC NCBI
ClinVar RCV:
RCV000174054
RCV000385875
RCV000894059
RCV003947470
ClinVar Variation:
193847
COSMIC:
COSM5762850
COSM5762851
dbSNP:
138190335
gnomAD v2:
16:68719119 T / C
gnomAD v3:
16:68685216 T / C
gnomAD v4:
chr16-68685216-T-C
Joint Max Group AF 0.0032723 (NFE)
Genomes Max Group AF 0.00274522 (NFE)
Exomes Max Group AF 0.00328637 (NFE)
MyVariant.info:
GRCh38 chr16:g.68685216T>C
GRCh37 chr16:g.68719119T>C
Revel Score:
ENST00000429102 0.339
ENST00000264012 (MANE Select) 0.339
ENST00000542274 0.339
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68685216T>C , CM000678.2:g.68685216T>C GRCh38
NC_000016.9:g.68719119T>C , CM000678.1:g.68719119T>C GRCh37
NC_000016.8:g.67276620T>C NCBI36
NG_009096.1:g.45969T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264012.9:c.1436T>C MANE Select ENSP00000264012.4:p.Leu479Pro
ENST00000264012.8:c.1436T>C ENSP00000264012.4:p.Leu479Pro
ENST00000429102.6:c.1436T>C ENSP00000398485.2:p.Leu479Pro
ENST00000542274.5:c.*1174T>C ENSP00000464021.1:n.*1174T>C
NM_001793.4:c.1436T>C NP_001784.2:p.Leu479Pro
XM_011522800.1:c.1436T>C XP_011521102.1:p.Leu479Pro
NM_001317195.1:c.1436T>C NP_001304124.1:p.Leu479Pro
NM_001317196.1:c.1271T>C NP_001304125.1:p.Leu424Pro
NM_001793.5:c.1436T>C NP_001784.2:p.Leu479Pro
XM_011522800.3:c.1436T>C XP_011521102.1:p.Leu479Pro
NM_001793.6:c.1436T>C MANE Select NP_001784.2:p.Leu479Pro
NM_001317195.2:c.1436T>C NP_001304124.1:p.Leu479Pro
NM_001317196.2:c.1271T>C NP_001304125.1:p.Leu424Pro
NM_001317195.3:c.1436T>C NP_001304124.1:p.Leu479Pro
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