Canonical Allele Identifier: CA396472957

Gene: CDH1

Linked Data

• ClinVar Variation Id: 919680
• ClinVar RCV Id: RCV001177993 ; RCV003229615
• dbSNP Id: rs1555518315
• MyVariant Identifiers: chr16:g.68867399C>G (hg19) ; chr16:g.68833496C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68833496C>G , CM000678.2:g.68833496C>G	GRCh38
NC_000016.9:g.68867399C>G , CM000678.1:g.68867399C>G	GRCh37
NC_000016.8:g.67424900C>G	NCBI36
NG_008021.1:g.101205C>G , LRG_301:g.101205C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.2646C>G MANE Select	ENSP00000261769.4:p.Asp882Glu
ENST00000261769.9:c.2646C>G	ENSP00000261769.4:p.Asp882Glu
ENST00000422392.6:c.2463C>G	ENSP00000414946.2:p.Asp821Glu
ENST00000562118.1:n.864C>G
ENST00000562836.5:n.2717C>G
ENST00000566510.5:c.*1312C>G	ENSP00000458139.1:n.*1312C>G
ENST00000566612.5:c.*886C>G	ENSP00000454782.1:n.*886C>G
ENST00000611625.4:c.2709C>G	ENSP00000481063.1:p.Asp903Glu
ENST00000612417.4:c.1854-695C>G	ENSP00000478360.1:n.1854-695C>G
ENST00000621016.4:c.1866-707C>G	ENSP00000480664.1:n.1866-707C>G
NM_004360.3:c.2646C>G , LRG_301t1:c.2646C>G	NP_004351.1:p.Asp882Glu
XM_011523488.1:c.1911C>G	XP_011521790.1:p.Asp637Glu
XM_011523489.1:c.1911C>G	XP_011521791.1:p.Asp637Glu
NM_001317184.1:c.2463C>G	NP_001304113.1:p.Asp821Glu
NM_001317185.1:c.1098C>G	NP_001304114.1:p.Asp366Glu
NM_001317186.1:c.681C>G	NP_001304115.1:p.Asp227Glu
NM_004360.4:c.2646C>G	NP_004351.1:p.Asp882Glu
NM_004360.5:c.2646C>G MANE Select	NP_004351.1:p.Asp882Glu
NM_001317184.2:c.2463C>G	NP_001304113.1:p.Asp821Glu
NM_001317185.2:c.1098C>G	NP_001304114.1:p.Asp366Glu
NM_001317186.2:c.681C>G	NP_001304115.1:p.Asp227Glu