Canonical Allele Identifier: CA396471283
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2453319
ClinVar RCV Id: RCV003182774 RCV003336831
COSMIC: COSM4771414
MyVariant Identifiers: chr16:g.68863677G>T (hg19) chr16:g.68829774G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68829774G>T , CM000678.2:g.68829774G>T GRCh38
NC_000016.9:g.68863677G>T , CM000678.1:g.68863677G>T GRCh37
NC_000016.8:g.67421178G>T NCBI36
NG_008021.1:g.97483G>T , LRG_301:g.97483G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2416G>T MANE Select ENSP00000261769.4:p.Glu806Ter
ENST00000261769.9:c.2416G>T ENSP00000261769.4:p.Glu806Ter
ENST00000422392.6:c.2233G>T ENSP00000414946.2:p.Glu745Ter
ENST00000562118.1:n.634G>T
ENST00000562836.5:n.2487G>T
ENST00000566510.5:c.*1082G>T ENSP00000458139.1:n.*1082G>T
ENST00000566612.5:c.*656G>T ENSP00000454782.1:n.*656G>T
ENST00000611625.4:c.2479G>T ENSP00000481063.1:p.Glu827Ter
ENST00000612417.4:c.1853+3220G>T ENSP00000478360.1:n.1853+3220G>T
ENST00000621016.4:c.1866-4429G>T ENSP00000480664.1:n.1866-4429G>T
NM_004360.3:c.2416G>T , LRG_301t1:c.2416G>T NP_004351.1:p.Glu806Ter
XM_011523488.1:c.1681G>T XP_011521790.1:p.Glu561Ter
XM_011523489.1:c.1681G>T XP_011521791.1:p.Glu561Ter
NM_001317184.1:c.2233G>T NP_001304113.1:p.Glu745Ter
NM_001317185.1:c.868G>T NP_001304114.1:p.Glu290Ter
NM_001317186.1:c.451G>T NP_001304115.1:p.Glu151Ter
NM_004360.4:c.2416G>T NP_004351.1:p.Glu806Ter
NM_004360.5:c.2416G>T MANE Select NP_004351.1:p.Glu806Ter
NM_001317184.2:c.2233G>T NP_001304113.1:p.Glu745Ter
NM_001317185.2:c.868G>T NP_001304114.1:p.Glu290Ter
NM_001317186.2:c.451G>T NP_001304115.1:p.Glu151Ter
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