Canonical Allele Identifier: CA396467856
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 463743
ClinVar RCV Id: RCV000530851 RCV003328397 RCV002420415
dbSNP Id: rs149127230
MyVariant Identifiers: chr16:g.68857469G>T (hg19) chr16:g.68823566G>T (hg38)
ERepo: CA396467856/MONDO:0007648/007 CA396467856/MONDO:0100488/007
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68823566G>T , CM000678.2:g.68823566G>T GRCh38
NC_000016.9:g.68857469G>T , CM000678.1:g.68857469G>T GRCh37
NC_000016.8:g.67414970G>T NCBI36
NG_008021.1:g.91275G>T , LRG_301:g.91275G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2104G>T MANE Select ENSP00000261769.4:p.Glu702Ter
ENST00000261769.9:c.2104G>T ENSP00000261769.4:p.Glu702Ter
ENST00000422392.6:c.1921G>T ENSP00000414946.2:p.Glu641Ter
ENST00000562118.1:n.322G>T
ENST00000562836.5:n.2175G>T
ENST00000566510.5:c.*770G>T ENSP00000458139.1:n.*770G>T
ENST00000566612.5:c.*344G>T ENSP00000454782.1:n.*344G>T
ENST00000611625.4:c.2167G>T ENSP00000481063.1:p.Glu723Ter
ENST00000612417.4:c.1830+1447G>T ENSP00000478360.1:n.1830+1447G>T
ENST00000621016.4:c.1865+1412G>T ENSP00000480664.1:n.1865+1412G>T
NM_004360.3:c.2104G>T , LRG_301t1:c.2104G>T NP_004351.1:p.Glu702Ter
XM_011523488.1:c.1369G>T XP_011521790.1:p.Glu457Ter
XM_011523489.1:c.1369G>T XP_011521791.1:p.Glu457Ter
NM_001317184.1:c.1921G>T NP_001304113.1:p.Glu641Ter
NM_001317185.1:c.556G>T NP_001304114.1:p.Glu186Ter
NM_001317186.1:c.139G>T NP_001304115.1:p.Glu47Ter
NM_004360.4:c.2104G>T NP_004351.1:p.Glu702Ter
NM_004360.5:c.2104G>T MANE Select NP_004351.1:p.Glu702Ter
NM_001317184.2:c.1921G>T NP_001304113.1:p.Glu641Ter
NM_001317185.2:c.556G>T NP_001304114.1:p.Glu186Ter
NM_001317186.2:c.139G>T NP_001304115.1:p.Glu47Ter
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