Canonical Allele Identifier: CA396466309
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 846409
ClinVar RCV Id: RCV001049707
dbSNP Id: rs1596963360

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68822021A>G , CM000678.2:g.68822021A>G GRCh38
NC_000016.9:g.68855924A>G , CM000678.1:g.68855924A>G GRCh37
NC_000016.8:g.67413425A>G NCBI36
NG_008021.1:g.89730A>G , LRG_301:g.89730A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000261769.10:c.1732A>G MANE Select ENSP00000261769.4:p.Thr578Ala
ENST00000261769.9:c.1732A>G ENSP00000261769.4:p.Thr578Ala
ENST00000422392.6:c.1549A>G ENSP00000414946.2:p.Thr517Ala
ENST00000562836.5:n.1803A>G
ENST00000566510.5:c.*398A>G ENSP00000458139.1:n.*398A>G
ENST00000566612.5:c.1586A>G ENSP00000454782.1:p.Asn529Ser
ENST00000611625.4:c.1795A>G ENSP00000481063.1:p.Thr599Ala
ENST00000612417.4:c.1732A>G ENSP00000478360.1:p.Thr578Ala
ENST00000621016.4:c.1732A>G ENSP00000480664.1:p.Thr578Ala
NM_004360.3:c.1732A>G , LRG_301t1:c.1732A>G NP_004351.1:p.Thr578Ala
XM_011523488.1:c.997A>G XP_011521790.1:p.Thr333Ala
XM_011523489.1:c.997A>G XP_011521791.1:p.Thr333Ala
NM_001317184.1:c.1549A>G NP_001304113.1:p.Thr517Ala
NM_001317185.1:c.184A>G NP_001304114.1:p.Thr62Ala
NM_001317186.1:c.-234A>G NP_001304115.1:n.-234A>G
NM_004360.4:c.1732A>G NP_004351.1:p.Thr578Ala
NM_004360.5:c.1732A>G MANE Select NP_004351.1:p.Thr578Ala
NM_001317184.2:c.1549A>G NP_001304113.1:p.Thr517Ala
NM_001317185.2:c.184A>G NP_001304114.1:p.Thr62Ala
NM_001317186.2:c.-234A>G NP_001304115.1:n.-234A>G