Canonical Allele Identifier: CA8130272
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3224174
ClinVar RCV Id: RCV004518900
dbSNP Id: rs761852331

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68829779T>G , CM000678.2:g.68829779T>G GRCh38
NC_000016.9:g.68863682T>G , CM000678.1:g.68863682T>G GRCh37
NC_000016.8:g.67421183T>G NCBI36
NG_008021.1:g.97488T>G , LRG_301:g.97488T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2421T>G MANE Select ENSP00000261769.4:p.Ile807Met
ENST00000261769.9:c.2421T>G ENSP00000261769.4:p.Ile807Met
ENST00000422392.6:c.2238T>G ENSP00000414946.2:p.Ile746Met
ENST00000562118.1:n.639T>G
ENST00000562836.5:n.2492T>G
ENST00000566510.5:c.*1087T>G ENSP00000458139.1:n.*1087T>G
ENST00000566612.5:c.*661T>G ENSP00000454782.1:n.*661T>G
ENST00000611625.4:c.2484T>G ENSP00000481063.1:p.Ile828Met
ENST00000612417.4:c.1853+3225T>G ENSP00000478360.1:n.1853+3225T>G
ENST00000621016.4:c.1866-4424T>G ENSP00000480664.1:n.1866-4424T>G
NM_004360.3:c.2421T>G , LRG_301t1:c.2421T>G NP_004351.1:p.Ile807Met
XM_011523488.1:c.1686T>G XP_011521790.1:p.Ile562Met
XM_011523489.1:c.1686T>G XP_011521791.1:p.Ile562Met
NM_001317184.1:c.2238T>G NP_001304113.1:p.Ile746Met
NM_001317185.1:c.873T>G NP_001304114.1:p.Ile291Met
NM_001317186.1:c.456T>G NP_001304115.1:p.Ile152Met
NM_004360.4:c.2421T>G NP_004351.1:p.Ile807Met
NM_004360.5:c.2421T>G MANE Select NP_004351.1:p.Ile807Met
NM_001317184.2:c.2238T>G NP_001304113.1:p.Ile746Met
NM_001317185.2:c.873T>G NP_001304114.1:p.Ile291Met
NM_001317186.2:c.456T>G NP_001304115.1:p.Ile152Met