Canonical Allele Identifier: CA147289

Gene: CDH3

Linked Data

• ClinVar Variation Id: 93783
• ClinVar RCV Id: RCV000079721 ; RCV000277967 ; RCV000841447
• dbSNP Id: rs17715450
• ExAC: 16:68729785 C / A
• gnomAD v2: 16-68729785-C-A
• gnomAD v3: 16-68695882-C-A
• gnomAD v4: 16-68695882-C-A
• MyVariant Identifiers: chr16:g.68729785C>A (hg19) ; chr16:g.68695882C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68695882C>A , CM000678.2:g.68695882C>A	GRCh38
NC_000016.9:g.68729785C>A , CM000678.1:g.68729785C>A	GRCh37
NC_000016.8:g.67287286C>A	NCBI36
NG_009096.1:g.56635C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264012.9:c.2239C>A MANE Select	ENSP00000264012.4:p.Arg747=
ENST00000569080.2:c.58C>A	ENSP00000463415.1:p.Arg20=
ENST00000264012.8:c.2239C>A	ENSP00000264012.4:p.Arg747=
ENST00000429102.6:c.2239C>A	ENSP00000398485.2:p.Arg747=
ENST00000542274.5:c.*1977C>A	ENSP00000464021.1:n.*1977C>A
ENST00000567674.1:c.569C>A
ENST00000568292.1:c.318C>A
ENST00000569080.1:c.58C>A	ENSP00000463415.1:p.Arg20=
NM_001793.4:c.2239C>A	NP_001784.2:p.Arg747=
XM_011522800.1:c.2239C>A	XP_011521102.1:p.Arg747=
NM_001317195.1:c.2239C>A	NP_001304124.1:p.Arg747=
NM_001317196.1:c.2074C>A	NP_001304125.1:p.Arg692=
NM_001793.5:c.2239C>A	NP_001784.2:p.Arg747=
XM_011522800.3:c.2239C>A	XP_011521102.1:p.Arg747=
NM_001793.6:c.2239C>A MANE Select	NP_001784.2:p.Arg747=
NM_001317195.2:c.2239C>A	NP_001304124.1:p.Arg747=
NM_001317196.2:c.2074C>A	NP_001304125.1:p.Arg692=
NM_001317195.3:c.2239C>A	NP_001304124.1:p.Arg747=