Canonical Allele Identifier: CA8130270

Gene: CDH1

Linked Data

• ClinVar Variation Id: 483221
• ClinVar RCV Id: RCV000562840 ; RCV001312355
• dbSNP Id: rs780510260
• ExAC: 16:68863668 A / G
• gnomAD v2: 16-68863668-A-G
• gnomAD v4: 16-68829765-A-G
• MyVariant Identifiers: chr16:g.68863668A>G (hg19) ; chr16:g.68829765A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68829765A>G , CM000678.2:g.68829765A>G	GRCh38
NC_000016.9:g.68863668A>G , CM000678.1:g.68863668A>G	GRCh37
NC_000016.8:g.67421169A>G	NCBI36
NG_008021.1:g.97474A>G , LRG_301:g.97474A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.2407A>G MANE Select	ENSP00000261769.4:p.Asn803Asp
ENST00000261769.9:c.2407A>G	ENSP00000261769.4:p.Asn803Asp
ENST00000422392.6:c.2224A>G	ENSP00000414946.2:p.Asn742Asp
ENST00000562118.1:n.625A>G
ENST00000562836.5:n.2478A>G
ENST00000566510.5:c.*1073A>G	ENSP00000458139.1:n.*1073A>G
ENST00000566612.5:c.*647A>G	ENSP00000454782.1:n.*647A>G
ENST00000611625.4:c.2470A>G	ENSP00000481063.1:p.Asn824Asp
ENST00000612417.4:c.1853+3211A>G	ENSP00000478360.1:n.1853+3211A>G
ENST00000621016.4:c.1866-4438A>G	ENSP00000480664.1:n.1866-4438A>G
NM_004360.3:c.2407A>G , LRG_301t1:c.2407A>G	NP_004351.1:p.Asn803Asp
XM_011523488.1:c.1672A>G	XP_011521790.1:p.Asn558Asp
XM_011523489.1:c.1672A>G	XP_011521791.1:p.Asn558Asp
NM_001317184.1:c.2224A>G	NP_001304113.1:p.Asn742Asp
NM_001317185.1:c.859A>G	NP_001304114.1:p.Asn287Asp
NM_001317186.1:c.442A>G	NP_001304115.1:p.Asn148Asp
NM_004360.4:c.2407A>G	NP_004351.1:p.Asn803Asp
NM_004360.5:c.2407A>G MANE Select	NP_004351.1:p.Asn803Asp
NM_001317184.2:c.2224A>G	NP_001304113.1:p.Asn742Asp
NM_001317185.2:c.859A>G	NP_001304114.1:p.Asn287Asp
NM_001317186.2:c.442A>G	NP_001304115.1:p.Asn148Asp