Canonical Allele Identifier: CA396457312
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1496472
ClinVar RCV Id: RCV002028521
dbSNP Id: rs2152126853
gnomAD v4: 16-68801793-T-C
COSMIC: COSM2996743
MyVariant Identifiers: chr16:g.68835696T>C (hg19) chr16:g.68801793T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68801793T>C , CM000678.2:g.68801793T>C GRCh38
NC_000016.9:g.68835696T>C , CM000678.1:g.68835696T>C GRCh37
NC_000016.8:g.67393197T>C NCBI36
NG_008021.1:g.69502T>C , LRG_301:g.69502T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000261769.10:c.287T>C MANE Select ENSP00000261769.4:p.Ile96Thr
ENST00000261769.9:c.287T>C ENSP00000261769.4:p.Ile96Thr
ENST00000422392.6:c.287T>C ENSP00000414946.2:p.Ile96Thr
ENST00000561751.1:c.54T>C
ENST00000562836.5:n.358T>C
ENST00000564676.5:n.569T>C
ENST00000564745.1:n.282T>C
ENST00000566510.5:c.287T>C ENSP00000458139.1:p.Ile96Thr
ENST00000566612.5:c.287T>C ENSP00000454782.1:p.Ile96Thr
ENST00000611625.4:c.287T>C ENSP00000481063.1:p.Ile96Thr
ENST00000612417.4:c.287T>C ENSP00000478360.1:p.Ile96Thr
ENST00000621016.4:c.287T>C ENSP00000480664.1:p.Ile96Thr
NM_004360.3:c.287T>C , LRG_301t1:c.287T>C NP_004351.1:p.Ile96Thr
XM_011523488.1:c.-449T>C XP_011521790.1:n.-449T>C
XM_011523489.1:c.-449T>C XP_011521791.1:n.-449T>C
NM_001317184.1:c.287T>C NP_001304113.1:p.Ile96Thr
NM_001317185.1:c.-1329T>C NP_001304114.1:n.-1329T>C
NM_001317186.1:c.-1533T>C NP_001304115.1:n.-1533T>C
NM_004360.4:c.287T>C NP_004351.1:p.Ile96Thr
NM_004360.5:c.287T>C MANE Select NP_004351.1:p.Ile96Thr
NM_001317184.2:c.287T>C NP_001304113.1:p.Ile96Thr
NM_001317185.2:c.-1329T>C NP_001304114.1:n.-1329T>C
NM_001317186.2:c.-1533T>C NP_001304115.1:n.-1533T>C
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