Canonical Allele Identifier: CA396472648
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2012028
ClinVar RCV Id: RCV002838846
dbSNP Id: rs1596976659

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68833449A>G , CM000678.2:g.68833449A>G GRCh38
NC_000016.9:g.68867352A>G , CM000678.1:g.68867352A>G GRCh37
NC_000016.8:g.67424853A>G NCBI36
NG_008021.1:g.101158A>G , LRG_301:g.101158A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2599A>G MANE Select ENSP00000261769.4:p.Asn867Asp
ENST00000261769.9:c.2599A>G ENSP00000261769.4:p.Asn867Asp
ENST00000422392.6:c.2416A>G ENSP00000414946.2:p.Asn806Asp
ENST00000562118.1:n.817A>G
ENST00000562836.5:n.2670A>G
ENST00000566510.5:c.*1265A>G ENSP00000458139.1:n.*1265A>G
ENST00000566612.5:c.*839A>G ENSP00000454782.1:n.*839A>G
ENST00000611625.4:c.2662A>G ENSP00000481063.1:p.Asn888Asp
ENST00000612417.4:c.1854-742A>G ENSP00000478360.1:n.1854-742A>G
ENST00000621016.4:c.1866-754A>G ENSP00000480664.1:n.1866-754A>G
NM_004360.3:c.2599A>G , LRG_301t1:c.2599A>G NP_004351.1:p.Asn867Asp
XM_011523488.1:c.1864A>G XP_011521790.1:p.Asn622Asp
XM_011523489.1:c.1864A>G XP_011521791.1:p.Asn622Asp
NM_001317184.1:c.2416A>G NP_001304113.1:p.Asn806Asp
NM_001317185.1:c.1051A>G NP_001304114.1:p.Asn351Asp
NM_001317186.1:c.634A>G NP_001304115.1:p.Asn212Asp
NM_004360.4:c.2599A>G NP_004351.1:p.Asn867Asp
NM_004360.5:c.2599A>G MANE Select NP_004351.1:p.Asn867Asp
NM_001317184.2:c.2416A>G NP_001304113.1:p.Asn806Asp
NM_001317185.2:c.1051A>G NP_001304114.1:p.Asn351Asp
NM_001317186.2:c.634A>G NP_001304115.1:p.Asn212Asp