Canonical Allele Identifier: CA174395

Gene: CDH3

Linked Data

• ClinVar Variation Id: 161583
• ClinVar RCV Id: RCV000149118 ; RCV001036583
• dbSNP Id: rs193921054
• ExAC: 16:68710362 G / A
• gnomAD v2: 16-68710362-G-A
• gnomAD v3: 16-68676459-G-A
• gnomAD v4: 16-68676459-G-A
• COSMIC: COSM1179085
• MyVariant Identifiers: chr16:g.68710362G>A (hg19) ; chr16:g.68676459G>A (hg38)
• PubMed: PMID:23265383

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68676459G>A , CM000678.2:g.68676459G>A	GRCh38
NC_000016.9:g.68710362G>A , CM000678.1:g.68710362G>A	GRCh37
NC_000016.8:g.67267863G>A	NCBI36
NG_009096.1:g.37212G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264012.9:c.235G>A MANE Select	ENSP00000264012.4:p.Glu79Lys
ENST00000264012.8:c.235G>A	ENSP00000264012.4:p.Glu79Lys
ENST00000429102.6:c.235G>A	ENSP00000398485.2:p.Glu79Lys
ENST00000542274.5:c.120G>A	ENSP00000464021.1:p.Ala40=
ENST00000566808.2:c.115-1675G>A
NM_001793.4:c.235G>A	NP_001784.2:p.Glu79Lys
XM_011522800.1:c.235G>A	XP_011521102.1:p.Glu79Lys
NM_001317195.1:c.235G>A	NP_001304124.1:p.Glu79Lys
NM_001317196.1:c.70G>A	NP_001304125.1:p.Glu24Lys
NM_001793.5:c.235G>A	NP_001784.2:p.Glu79Lys
XM_011522800.3:c.235G>A	XP_011521102.1:p.Glu79Lys
NM_001793.6:c.235G>A MANE Select	NP_001784.2:p.Glu79Lys
NM_001317195.2:c.235G>A	NP_001304124.1:p.Glu79Lys
NM_001317196.2:c.70G>A	NP_001304125.1:p.Glu24Lys
NM_001317195.3:c.235G>A	NP_001304124.1:p.Glu79Lys