Canonical Allele Identifier: CA16620236
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 420004
ClinVar RCV Id: RCV000480530 RCV001078226 RCV003328357
dbSNP Id: rs1064794230
MyVariant Identifiers: chr16:g.68842428C>A (hg19) chr16:g.68808525C>A (hg38)
ERepo: CA16620236/MONDO:0007648/007 CA16620236/MONDO:0100488/007
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68808525C>A , CM000678.2:g.68808525C>A GRCh38
NC_000016.9:g.68842428C>A , CM000678.1:g.68842428C>A GRCh37
NC_000016.8:g.67399929C>A NCBI36
NG_008021.1:g.76234C>A , LRG_301:g.76234C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.489C>A MANE Select ENSP00000261769.4:p.Cys163Ter
ENST00000261769.9:c.489C>A ENSP00000261769.4:p.Cys163Ter
ENST00000422392.6:c.489C>A ENSP00000414946.2:p.Cys163Ter
ENST00000561751.1:c.256C>A
ENST00000562836.5:n.560C>A
ENST00000564676.5:n.771C>A
ENST00000564745.1:n.484C>A
ENST00000566510.5:c.489C>A ENSP00000458139.1:p.Cys163Ter
ENST00000566612.5:c.489C>A ENSP00000454782.1:p.Cys163Ter
ENST00000611625.4:c.489C>A ENSP00000481063.1:p.Cys163Ter
ENST00000612417.4:c.489C>A ENSP00000478360.1:p.Cys163Ter
ENST00000621016.4:c.489C>A ENSP00000480664.1:p.Cys163Ter
NM_004360.3:c.489C>A , LRG_301t1:c.489C>A NP_004351.1:p.Cys163Ter
XM_011523488.1:c.-247C>A XP_011521790.1:n.-247C>A
XM_011523489.1:c.-247C>A XP_011521791.1:n.-247C>A
NM_001317184.1:c.489C>A NP_001304113.1:p.Cys163Ter
NM_001317185.1:c.-1127C>A NP_001304114.1:n.-1127C>A
NM_001317186.1:c.-1331C>A NP_001304115.1:n.-1331C>A
NM_004360.4:c.489C>A NP_004351.1:p.Cys163Ter
NM_004360.5:c.489C>A MANE Select NP_004351.1:p.Cys163Ter
NM_001317184.2:c.489C>A NP_001304113.1:p.Cys163Ter
NM_001317185.2:c.-1127C>A NP_001304114.1:n.-1127C>A
NM_001317186.2:c.-1331C>A NP_001304115.1:n.-1331C>A
Search 100 bp 5'
Search 100 bp 3'