Canonical Allele Identifier: CA8129554

Gene: CDH3

Linked Data

• ClinVar Variation Id: 281442
• ClinVar RCV Id: RCV000326141 ; RCV000388300
• dbSNP Id: rs758614807
• ExAC: 16:68729197 G / A
• gnomAD v2: 16-68729197-G-A
• gnomAD v3: 16-68695294-G-A
• gnomAD v4: 16-68695294-G-A
• MyVariant Identifiers: chr16:g.68729197G>A (hg19) ; chr16:g.68695294G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68695294G>A , CM000678.2:g.68695294G>A	GRCh38
NC_000016.9:g.68729197G>A , CM000678.1:g.68729197G>A	GRCh37
NC_000016.8:g.67286698G>A	NCBI36
NG_009096.1:g.56047G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264012.9:c.2042G>A MANE Select	ENSP00000264012.4:p.Arg681Gln
ENST00000264012.8:c.2042G>A	ENSP00000264012.4:p.Arg681Gln
ENST00000429102.6:c.2042G>A	ENSP00000398485.2:p.Arg681Gln
ENST00000542274.5:c.*1780G>A	ENSP00000464021.1:n.*1780G>A
ENST00000567674.1:c.372G>A
ENST00000568292.1:c.121G>A
NM_001793.4:c.2042G>A	NP_001784.2:p.Arg681Gln
XM_011522800.1:c.2042G>A	XP_011521102.1:p.Arg681Gln
NM_001317195.1:c.2042G>A	NP_001304124.1:p.Arg681Gln
NM_001317196.1:c.1877G>A	NP_001304125.1:p.Arg626Gln
NM_001793.5:c.2042G>A	NP_001784.2:p.Arg681Gln
XM_011522800.3:c.2042G>A	XP_011521102.1:p.Arg681Gln
NM_001793.6:c.2042G>A MANE Select	NP_001784.2:p.Arg681Gln
NM_001317195.2:c.2042G>A	NP_001304124.1:p.Arg681Gln
NM_001317196.2:c.1877G>A	NP_001304125.1:p.Arg626Gln
NM_001317195.3:c.2042G>A	NP_001304124.1:p.Arg681Gln