Canonical Allele Identifier: CA349933
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 219925
ClinVar RCV Id: RCV000205814
dbSNP Id: rs864622310

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68833336C>A , CM000678.2:g.68833336C>A GRCh38
NC_000016.9:g.68867239C>A , CM000678.1:g.68867239C>A GRCh37
NC_000016.8:g.67424740C>A NCBI36
NG_008021.1:g.101045C>A , LRG_301:g.101045C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2486C>A MANE Select ENSP00000261769.4:p.Ser829Tyr
ENST00000261769.9:c.2486C>A ENSP00000261769.4:p.Ser829Tyr
ENST00000422392.6:c.2303C>A ENSP00000414946.2:p.Ser768Tyr
ENST00000562118.1:n.704C>A
ENST00000562836.5:n.2557C>A
ENST00000566510.5:c.*1152C>A ENSP00000458139.1:n.*1152C>A
ENST00000566612.5:c.*726C>A ENSP00000454782.1:n.*726C>A
ENST00000611625.4:c.2549C>A ENSP00000481063.1:p.Ser850Tyr
ENST00000612417.4:c.1854-855C>A ENSP00000478360.1:n.1854-855C>A
ENST00000621016.4:c.1866-867C>A ENSP00000480664.1:n.1866-867C>A
NM_004360.3:c.2486C>A , LRG_301t1:c.2486C>A NP_004351.1:p.Ser829Tyr
XM_011523488.1:c.1751C>A XP_011521790.1:p.Ser584Tyr
XM_011523489.1:c.1751C>A XP_011521791.1:p.Ser584Tyr
NM_001317184.1:c.2303C>A NP_001304113.1:p.Ser768Tyr
NM_001317185.1:c.938C>A NP_001304114.1:p.Ser313Tyr
NM_001317186.1:c.521C>A NP_001304115.1:p.Ser174Tyr
NM_004360.4:c.2486C>A NP_004351.1:p.Ser829Tyr
NM_004360.5:c.2486C>A MANE Select NP_004351.1:p.Ser829Tyr
NM_001317184.2:c.2303C>A NP_001304113.1:p.Ser768Tyr
NM_001317185.2:c.938C>A NP_001304114.1:p.Ser313Tyr
NM_001317186.2:c.521C>A NP_001304115.1:p.Ser174Tyr