Canonical Allele Identifier: CA280996
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 12239
ClinVar RCV Id: RCV000013026
dbSNP Id: rs121964875
COSMIC: COSM19502

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68738307G>A , CM000678.2:g.68738307G>A GRCh38
NC_000016.9:g.68772210G>A , CM000678.1:g.68772210G>A GRCh37
NC_000016.8:g.67329711G>A NCBI36
NG_008021.1:g.6016G>A , LRG_301:g.6016G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000261769.10:c.59G>A MANE Select ENSP00000261769.4:p.Trp20Ter
ENST00000261769.9:c.59G>A ENSP00000261769.4:p.Trp20Ter
ENST00000422392.6:c.59G>A ENSP00000414946.2:p.Trp20Ter
ENST00000566510.5:c.59G>A ENSP00000458139.1:p.Trp20Ter
ENST00000566612.5:c.59G>A ENSP00000454782.1:p.Trp20Ter
ENST00000611625.4:c.59G>A ENSP00000481063.1:p.Trp20Ter
ENST00000612417.4:c.59G>A ENSP00000478360.1:p.Trp20Ter
ENST00000621016.4:c.59G>A ENSP00000480664.1:p.Trp20Ter
NM_004360.3:c.59G>A , LRG_301t1:c.59G>A NP_004351.1:p.Trp20Ter
NM_001317184.1:c.59G>A NP_001304113.1:p.Trp20Ter
NM_001317185.1:c.-1557G>A NP_001304114.1:p.=
NM_001317186.1:c.-1761G>A NP_001304115.1:p.=
NM_004360.4:c.59G>A NP_004351.1:p.Trp20Ter
NM_004360.5:c.59G>A MANE Select NP_004351.1:p.Trp20Ter
NM_001317184.2:c.59G>A NP_001304113.1:p.Trp20Ter
NM_001317185.2:c.-1557G>A NP_001304114.1:p.=
NM_001317186.2:c.-1761G>A NP_001304115.1:p.=