Canonical Allele Identifier: CA8129819

Gene: CDH1

Linked Data

• ClinVar Variation Id: 463774
• ClinVar RCV Id: RCV000557751
• dbSNP Id: rs779313390
• ExAC: 16:68835671 C / A
• gnomAD v2: 16-68835671-C-A
• MyVariant Identifiers: chr16:g.68835671C>A (hg19) ; chr16:g.68801768C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68801768C>A , CM000678.2:g.68801768C>A	GRCh38
NC_000016.9:g.68835671C>A , CM000678.1:g.68835671C>A	GRCh37
NC_000016.8:g.67393172C>A	NCBI36
NG_008021.1:g.69477C>A , LRG_301:g.69477C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.262C>A MANE Select	ENSP00000261769.4:p.Pro88Thr
ENST00000261769.9:c.262C>A	ENSP00000261769.4:p.Pro88Thr
ENST00000422392.6:c.262C>A	ENSP00000414946.2:p.Pro88Thr
ENST00000561751.1:c.29C>A
ENST00000562836.5:n.333C>A
ENST00000564676.5:n.544C>A
ENST00000564745.1:n.257C>A
ENST00000566510.5:c.262C>A	ENSP00000458139.1:p.Pro88Thr
ENST00000566612.5:c.262C>A	ENSP00000454782.1:p.Pro88Thr
ENST00000611625.4:c.262C>A	ENSP00000481063.1:p.Pro88Thr
ENST00000612417.4:c.262C>A	ENSP00000478360.1:p.Pro88Thr
ENST00000621016.4:c.262C>A	ENSP00000480664.1:p.Pro88Thr
NM_004360.3:c.262C>A , LRG_301t1:c.262C>A	NP_004351.1:p.Pro88Thr
XM_011523488.1:c.-474C>A	XP_011521790.1:n.-474C>A
XM_011523489.1:c.-474C>A	XP_011521791.1:n.-474C>A
NM_001317184.1:c.262C>A	NP_001304113.1:p.Pro88Thr
NM_001317185.1:c.-1354C>A	NP_001304114.1:n.-1354C>A
NM_001317186.1:c.-1558C>A	NP_001304115.1:n.-1558C>A
NM_004360.4:c.262C>A	NP_004351.1:p.Pro88Thr
NM_004360.5:c.262C>A MANE Select	NP_004351.1:p.Pro88Thr
NM_001317184.2:c.262C>A	NP_001304113.1:p.Pro88Thr
NM_001317185.2:c.-1354C>A	NP_001304114.1:n.-1354C>A
NM_001317186.2:c.-1558C>A	NP_001304115.1:n.-1558C>A