Canonical Allele Identifier: CA10606978

Gene: CDH3

Linked Data

• ClinVar Variation Id: 290999
• ClinVar RCV Id: RCV000391563
• dbSNP Id: rs749703265
• gnomAD v2: 16-68679612-C-A
• gnomAD v3: 16-68645709-C-A
• gnomAD v4: 16-68645709-C-A
• MyVariant Identifiers: chr16:g.68679612C>A (hg19) ; chr16:g.68645709C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68645709C>A , CM000678.2:g.68645709C>A	GRCh38
NC_000016.9:g.68679612C>A , CM000678.1:g.68679612C>A	GRCh37
NC_000016.8:g.67237113C>A	NCBI36
NG_009096.1:g.6462C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264012.9:c.119C>A MANE Select	ENSP00000264012.4:p.Ala40Glu
ENST00000264012.8:c.119C>A	ENSP00000264012.4:p.Ala40Glu
ENST00000429102.6:c.119C>A	ENSP00000398485.2:p.Ala40Glu
ENST00000542274.5:c.45+285C>A	ENSP00000464021.1:n.45+285C>A
ENST00000566808.2:c.73C>A
NM_001793.4:c.119C>A	NP_001784.2:p.Ala40Glu
XM_011522800.1:c.119C>A	XP_011521102.1:p.Ala40Glu
NM_001317195.1:c.119C>A	NP_001304124.1:p.Ala40Glu
NM_001317196.1:c.-6+285C>A	NP_001304125.1:n.-6+285C>A
NM_001793.5:c.119C>A	NP_001784.2:p.Ala40Glu
XM_011522800.3:c.119C>A	XP_011521102.1:p.Ala40Glu
NM_001793.6:c.119C>A MANE Select	NP_001784.2:p.Ala40Glu
NM_001317195.2:c.119C>A	NP_001304124.1:p.Ala40Glu
NM_001317196.2:c.-6+285C>A	NP_001304125.1:n.-6+285C>A
NM_001317195.3:c.119C>A	NP_001304124.1:p.Ala40Glu