Canonical Allele Identifier: CA396470900

Gene: CDH1

Linked Data

• ClinVar Variation Id: 1789653
• ClinVar RCV Id: RCV002457609
• dbSNP Id: rs765299711
• MyVariant Identifiers: chr16:g.68863587C>G (hg19) ; chr16:g.68829684C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68829684C>G , CM000678.2:g.68829684C>G	GRCh38
NC_000016.9:g.68863587C>G , CM000678.1:g.68863587C>G	GRCh37
NC_000016.8:g.67421088C>G	NCBI36
NG_008021.1:g.97393C>G , LRG_301:g.97393C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.2326C>G MANE Select	ENSP00000261769.4:p.Leu776Val
ENST00000261769.9:c.2326C>G	ENSP00000261769.4:p.Leu776Val
ENST00000422392.6:c.2143C>G	ENSP00000414946.2:p.Leu715Val
ENST00000562118.1:n.544C>G
ENST00000562836.5:n.2397C>G
ENST00000566510.5:c.*992C>G	ENSP00000458139.1:n.*992C>G
ENST00000566612.5:c.*566C>G	ENSP00000454782.1:n.*566C>G
ENST00000611625.4:c.2389C>G	ENSP00000481063.1:p.Leu797Val
ENST00000612417.4:c.1853+3130C>G	ENSP00000478360.1:n.1853+3130C>G
ENST00000621016.4:c.1866-4519C>G	ENSP00000480664.1:n.1866-4519C>G
NM_004360.3:c.2326C>G , LRG_301t1:c.2326C>G	NP_004351.1:p.Leu776Val
XM_011523488.1:c.1591C>G	XP_011521790.1:p.Leu531Val
XM_011523489.1:c.1591C>G	XP_011521791.1:p.Leu531Val
NM_001317184.1:c.2143C>G	NP_001304113.1:p.Leu715Val
NM_001317185.1:c.778C>G	NP_001304114.1:p.Leu260Val
NM_001317186.1:c.361C>G	NP_001304115.1:p.Leu121Val
NM_004360.4:c.2326C>G	NP_004351.1:p.Leu776Val
NM_004360.5:c.2326C>G MANE Select	NP_004351.1:p.Leu776Val
NM_001317184.2:c.2143C>G	NP_001304113.1:p.Leu715Val
NM_001317185.2:c.778C>G	NP_001304114.1:p.Leu260Val
NM_001317186.2:c.361C>G	NP_001304115.1:p.Leu121Val