Canonical Allele Identifier: CA283291643
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 824323
dbSNP Id: rs903144020

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68801895T>A , CM000678.2:g.68801895T>A GRCh38
NC_000016.9:g.68835798T>A , CM000678.1:g.68835798T>A GRCh37
NC_000016.8:g.67393299T>A NCBI36
NG_008021.1:g.69604T>A , LRG_301:g.69604T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000261769.10:c.387+2T>A MANE Select ENSP00000261769.4:n.387+2T>A
ENST00000261769.9:c.387+2T>A ENSP00000261769.4:n.387+2T>A
ENST00000422392.6:c.387+2T>A ENSP00000414946.2:n.387+2T>A
ENST00000561751.1:c.154+2T>A
ENST00000562836.5:n.458+2T>A
ENST00000564676.5:n.669+2T>A
ENST00000564745.1:n.382+2T>A
ENST00000566510.5:c.387+2T>A ENSP00000458139.1:n.387+2T>A
ENST00000566612.5:c.387+2T>A ENSP00000454782.1:n.387+2T>A
ENST00000611625.4:c.387+2T>A ENSP00000481063.1:n.387+2T>A
ENST00000612417.4:c.387+2T>A ENSP00000478360.1:n.387+2T>A
ENST00000621016.4:c.387+2T>A ENSP00000480664.1:n.387+2T>A
NM_004360.3:c.387+2T>A , LRG_301t1:c.387+2T>A NP_004351.1:n.387+2T>A
XM_011523488.1:c.-349+2T>A XP_011521790.1:n.-349+2T>A
XM_011523489.1:c.-349+2T>A XP_011521791.1:n.-349+2T>A
NM_001317184.1:c.387+2T>A NP_001304113.1:n.387+2T>A
NM_001317185.1:c.-1229+2T>A NP_001304114.1:n.-1229+2T>A
NM_001317186.1:c.-1433+2T>A NP_001304115.1:n.-1433+2T>A
NM_004360.4:c.387+2T>A NP_004351.1:n.387+2T>A
NM_004360.5:c.387+2T>A MANE Select NP_004351.1:n.387+2T>A
NM_001317184.2:c.387+2T>A NP_001304113.1:n.387+2T>A
NM_001317185.2:c.-1229+2T>A NP_001304114.1:n.-1229+2T>A
NM_001317186.2:c.-1433+2T>A NP_001304115.1:n.-1433+2T>A