Canonical Allele Identifier: CA288054
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 127921
ClinVar RCV Id: RCV000115850 RCV000200454 RCV000212381 RCV003328174 RCV000588944 RCV001196782
dbSNP Id: rs149127230
ExAC: 16:68857469 G / A
gnomAD v2: 16-68857469-G-A
gnomAD v3: 16-68823566-G-A
gnomAD v4: 16-68823566-G-A
MyVariant Identifiers: chr16:g.68857469G>A (hg19) chr16:g.68823566G>A (hg38)
ERepo: CA288054/MONDO:0007648/007 CA288054/MONDO:0100488/007
PubMed: PMID:25637381 PMID:25980754 PMID:28135145
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2104G>A MANE Select ENSP00000261769.4:p.Glu702Lys
ENST00000261769.9:c.2104G>A ENSP00000261769.4:p.Glu702Lys
ENST00000422392.6:c.1921G>A ENSP00000414946.2:p.Glu641Lys
ENST00000562118.1:n.322G>A
ENST00000562836.5:n.2175G>A
ENST00000566510.5:c.*770G>A ENSP00000458139.1:n.*770G>A
ENST00000566612.5:c.*344G>A ENSP00000454782.1:n.*344G>A
ENST00000611625.4:c.2167G>A ENSP00000481063.1:p.Glu723Lys
ENST00000612417.4:c.1830+1447G>A ENSP00000478360.1:n.1830+1447G>A
ENST00000621016.4:c.1865+1412G>A ENSP00000480664.1:n.1865+1412G>A
NM_004360.3:c.2104G>A , LRG_301t1:c.2104G>A NP_004351.1:p.Glu702Lys
XM_011523488.1:c.1369G>A XP_011521790.1:p.Glu457Lys
XM_011523489.1:c.1369G>A XP_011521791.1:p.Glu457Lys
NM_001317184.1:c.1921G>A NP_001304113.1:p.Glu641Lys
NM_001317185.1:c.556G>A NP_001304114.1:p.Glu186Lys
NM_001317186.1:c.139G>A NP_001304115.1:p.Glu47Lys
NM_004360.4:c.2104G>A NP_004351.1:p.Glu702Lys
NM_004360.5:c.2104G>A MANE Select NP_004351.1:p.Glu702Lys
NM_001317184.2:c.1921G>A NP_001304113.1:p.Glu641Lys
NM_001317185.2:c.556G>A NP_001304114.1:p.Glu186Lys
NM_001317186.2:c.139G>A NP_001304115.1:p.Glu47Lys
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