Canonical Allele Identifier: CA396465386
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 848495
ClinVar RCV Id: RCV001052264
dbSNP Id: rs786201342

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68819404C>G , CM000678.2:g.68819404C>G GRCh38
NC_000016.9:g.68853307C>G , CM000678.1:g.68853307C>G GRCh37
NC_000016.8:g.67410808C>G NCBI36
NG_008021.1:g.87113C>G , LRG_301:g.87113C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000261769.10:c.1690C>G MANE Select ENSP00000261769.4:p.Leu564Val
ENST00000261769.9:c.1690C>G ENSP00000261769.4:p.Leu564Val
ENST00000422392.6:c.1507C>G ENSP00000414946.2:p.Leu503Val
ENST00000562836.5:n.1761C>G
ENST00000566510.5:c.*356C>G ENSP00000458139.1:n.*356C>G
ENST00000566612.5:c.1566-2597C>G ENSP00000454782.1:n.1566-2597C>G
ENST00000611625.4:c.1753C>G ENSP00000481063.1:p.Leu585Val
ENST00000612417.4:c.1690C>G ENSP00000478360.1:p.Leu564Val
ENST00000621016.4:c.1690C>G ENSP00000480664.1:p.Leu564Val
NM_004360.3:c.1690C>G , LRG_301t1:c.1690C>G NP_004351.1:p.Leu564Val
XM_011523488.1:c.955C>G XP_011521790.1:p.Leu319Val
XM_011523489.1:c.955C>G XP_011521791.1:p.Leu319Val
NM_001317184.1:c.1507C>G NP_001304113.1:p.Leu503Val
NM_001317185.1:c.142C>G NP_001304114.1:p.Leu48Val
NM_001317186.1:c.-254-2597C>G NP_001304115.1:n.-254-2597C>G
NM_004360.4:c.1690C>G NP_004351.1:p.Leu564Val
NM_004360.5:c.1690C>G MANE Select NP_004351.1:p.Leu564Val
NM_001317184.2:c.1507C>G NP_001304113.1:p.Leu503Val
NM_001317185.2:c.142C>G NP_001304114.1:p.Leu48Val
NM_001317186.2:c.-254-2597C>G NP_001304115.1:n.-254-2597C>G