Canonical Allele Identifier: CA396472178

Gene: CDH1

Linked Data

• ClinVar Variation Id: 566841
• ClinVar RCV Id: RCV000686764 ; RCV004026243
• dbSNP Id: rs1567517670
• MyVariant Identifiers: chr16:g.68867253G>A (hg19) ; chr16:g.68833350G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68833350G>A , CM000678.2:g.68833350G>A	GRCh38
NC_000016.9:g.68867253G>A , CM000678.1:g.68867253G>A	GRCh37
NC_000016.8:g.67424754G>A	NCBI36
NG_008021.1:g.101059G>A , LRG_301:g.101059G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.2500G>A MANE Select	ENSP00000261769.4:p.Asp834Asn
ENST00000261769.9:c.2500G>A	ENSP00000261769.4:p.Asp834Asn
ENST00000422392.6:c.2317G>A	ENSP00000414946.2:p.Asp773Asn
ENST00000562118.1:n.718G>A
ENST00000562836.5:n.2571G>A
ENST00000566510.5:c.*1166G>A	ENSP00000458139.1:n.*1166G>A
ENST00000566612.5:c.*740G>A	ENSP00000454782.1:n.*740G>A
ENST00000611625.4:c.2563G>A	ENSP00000481063.1:p.Asp855Asn
ENST00000612417.4:c.1854-841G>A	ENSP00000478360.1:n.1854-841G>A
ENST00000621016.4:c.1866-853G>A	ENSP00000480664.1:n.1866-853G>A
NM_004360.3:c.2500G>A , LRG_301t1:c.2500G>A	NP_004351.1:p.Asp834Asn
XM_011523488.1:c.1765G>A	XP_011521790.1:p.Asp589Asn
XM_011523489.1:c.1765G>A	XP_011521791.1:p.Asp589Asn
NM_001317184.1:c.2317G>A	NP_001304113.1:p.Asp773Asn
NM_001317185.1:c.952G>A	NP_001304114.1:p.Asp318Asn
NM_001317186.1:c.535G>A	NP_001304115.1:p.Asp179Asn
NM_004360.4:c.2500G>A	NP_004351.1:p.Asp834Asn
NM_004360.5:c.2500G>A MANE Select	NP_004351.1:p.Asp834Asn
NM_001317184.2:c.2317G>A	NP_001304113.1:p.Asp773Asn
NM_001317185.2:c.952G>A	NP_001304114.1:p.Asp318Asn
NM_001317186.2:c.535G>A	NP_001304115.1:p.Asp179Asn