Canonical Allele Identifier: CA16615418

Gene: CDH1

Linked Data

• ClinVar Variation Id: 406640
• ClinVar RCV Id: RCV000472243 ; RCV002436406
• dbSNP Id: rs1060501230
• MyVariant Identifiers: chr16:g.68867349G>A (hg19) ; chr16:g.68833446G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68833446G>A , CM000678.2:g.68833446G>A	GRCh38
NC_000016.9:g.68867349G>A , CM000678.1:g.68867349G>A	GRCh37
NC_000016.8:g.67424850G>A	NCBI36
NG_008021.1:g.101155G>A , LRG_301:g.101155G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.2596G>A MANE Select	ENSP00000261769.4:p.Gly866Ser
ENST00000261769.9:c.2596G>A	ENSP00000261769.4:p.Gly866Ser
ENST00000422392.6:c.2413G>A	ENSP00000414946.2:p.Gly805Ser
ENST00000562118.1:n.814G>A
ENST00000562836.5:n.2667G>A
ENST00000566510.5:c.*1262G>A	ENSP00000458139.1:n.*1262G>A
ENST00000566612.5:c.*836G>A	ENSP00000454782.1:n.*836G>A
ENST00000611625.4:c.2659G>A	ENSP00000481063.1:p.Gly887Ser
ENST00000612417.4:c.1854-745G>A	ENSP00000478360.1:n.1854-745G>A
ENST00000621016.4:c.1866-757G>A	ENSP00000480664.1:n.1866-757G>A
NM_004360.3:c.2596G>A , LRG_301t1:c.2596G>A	NP_004351.1:p.Gly866Ser
XM_011523488.1:c.1861G>A	XP_011521790.1:p.Gly621Ser
XM_011523489.1:c.1861G>A	XP_011521791.1:p.Gly621Ser
NM_001317184.1:c.2413G>A	NP_001304113.1:p.Gly805Ser
NM_001317185.1:c.1048G>A	NP_001304114.1:p.Gly350Ser
NM_001317186.1:c.631G>A	NP_001304115.1:p.Gly211Ser
NM_004360.4:c.2596G>A	NP_004351.1:p.Gly866Ser
NM_004360.5:c.2596G>A MANE Select	NP_004351.1:p.Gly866Ser
NM_001317184.2:c.2413G>A	NP_001304113.1:p.Gly805Ser
NM_001317185.2:c.1048G>A	NP_001304114.1:p.Gly350Ser
NM_001317186.2:c.631G>A	NP_001304115.1:p.Gly211Ser