Canonical Allele Identifier: CA396472322
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 821441
ClinVar RCV Id: RCV001015857
dbSNP Id: rs761400928

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68833380A>G , CM000678.2:g.68833380A>G GRCh38
NC_000016.9:g.68867283A>G , CM000678.1:g.68867283A>G GRCh37
NC_000016.8:g.67424784A>G NCBI36
NG_008021.1:g.101089A>G , LRG_301:g.101089A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2530A>G MANE Select ENSP00000261769.4:p.Ser844Gly
ENST00000261769.9:c.2530A>G ENSP00000261769.4:p.Ser844Gly
ENST00000422392.6:c.2347A>G ENSP00000414946.2:p.Ser783Gly
ENST00000562118.1:n.748A>G
ENST00000562836.5:n.2601A>G
ENST00000566510.5:c.*1196A>G ENSP00000458139.1:n.*1196A>G
ENST00000566612.5:c.*770A>G ENSP00000454782.1:n.*770A>G
ENST00000611625.4:c.2593A>G ENSP00000481063.1:p.Ser865Gly
ENST00000612417.4:c.1854-811A>G ENSP00000478360.1:n.1854-811A>G
ENST00000621016.4:c.1866-823A>G ENSP00000480664.1:n.1866-823A>G
NM_004360.3:c.2530A>G , LRG_301t1:c.2530A>G NP_004351.1:p.Ser844Gly
XM_011523488.1:c.1795A>G XP_011521790.1:p.Ser599Gly
XM_011523489.1:c.1795A>G XP_011521791.1:p.Ser599Gly
NM_001317184.1:c.2347A>G NP_001304113.1:p.Ser783Gly
NM_001317185.1:c.982A>G NP_001304114.1:p.Ser328Gly
NM_001317186.1:c.565A>G NP_001304115.1:p.Ser189Gly
NM_004360.4:c.2530A>G NP_004351.1:p.Ser844Gly
NM_004360.5:c.2530A>G MANE Select NP_004351.1:p.Ser844Gly
NM_001317184.2:c.2347A>G NP_001304113.1:p.Ser783Gly
NM_001317185.2:c.982A>G NP_001304114.1:p.Ser328Gly
NM_001317186.2:c.565A>G NP_001304115.1:p.Ser189Gly