Canonical Allele Identifier: CA396470795

Gene: CDH1

Linked Data

• ClinVar Variation Id: 838633
• ClinVar RCV Id: RCV001040219
• dbSNP Id: rs1961424317
• MyVariant Identifiers: chr16:g.68863569A>G (hg19) ; chr16:g.68829666A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68829666A>G , CM000678.2:g.68829666A>G	GRCh38
NC_000016.9:g.68863569A>G , CM000678.1:g.68863569A>G	GRCh37
NC_000016.8:g.67421070A>G	NCBI36
NG_008021.1:g.97375A>G , LRG_301:g.97375A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.2308A>G MANE Select	ENSP00000261769.4:p.Ser770Gly
ENST00000261769.9:c.2308A>G	ENSP00000261769.4:p.Ser770Gly
ENST00000422392.6:c.2125A>G	ENSP00000414946.2:p.Ser709Gly
ENST00000562118.1:n.526A>G
ENST00000562836.5:n.2379A>G
ENST00000566510.5:c.*974A>G	ENSP00000458139.1:n.*974A>G
ENST00000566612.5:c.*548A>G	ENSP00000454782.1:n.*548A>G
ENST00000611625.4:c.2371A>G	ENSP00000481063.1:p.Ser791Gly
ENST00000612417.4:c.1853+3112A>G	ENSP00000478360.1:n.1853+3112A>G
ENST00000621016.4:c.1866-4537A>G	ENSP00000480664.1:n.1866-4537A>G
NM_004360.3:c.2308A>G , LRG_301t1:c.2308A>G	NP_004351.1:p.Ser770Gly
XM_011523488.1:c.1573A>G	XP_011521790.1:p.Ser525Gly
XM_011523489.1:c.1573A>G	XP_011521791.1:p.Ser525Gly
NM_001317184.1:c.2125A>G	NP_001304113.1:p.Ser709Gly
NM_001317185.1:c.760A>G	NP_001304114.1:p.Ser254Gly
NM_001317186.1:c.343A>G	NP_001304115.1:p.Ser115Gly
NM_004360.4:c.2308A>G	NP_004351.1:p.Ser770Gly
NM_004360.5:c.2308A>G MANE Select	NP_004351.1:p.Ser770Gly
NM_001317184.2:c.2125A>G	NP_001304113.1:p.Ser709Gly
NM_001317185.2:c.760A>G	NP_001304114.1:p.Ser254Gly
NM_001317186.2:c.343A>G	NP_001304115.1:p.Ser115Gly