Canonical Allele Identifier: CA496153957
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1771636
ClinVar RCV Id: RCV002389113
dbSNP Id: rs2152134820
MyVariant Identifiers: chr16:g.68849492T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68815589T>C , CM000678.2:g.68815589T>C GRCh38
NC_000016.9:g.68849492T>C , CM000678.1:g.68849492T>C GRCh37
NC_000016.8:g.67406993T>C NCBI36
NG_008021.1:g.83298T>C , LRG_301:g.83298T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000261769.10:c.1395T>C MANE Select ENSP00000261769.4:p.Ser465=
ENST00000261769.9:c.1395T>C ENSP00000261769.4:p.Ser465=
ENST00000422392.6:c.1212T>C ENSP00000414946.2:p.Ser404=
ENST00000562836.5:n.1466T>C
ENST00000566510.5:c.*61T>C ENSP00000458139.1:n.*61T>C
ENST00000566612.5:c.1395T>C ENSP00000454782.1:p.Ser465=
ENST00000611625.4:c.1458T>C ENSP00000481063.1:p.Ser486=
ENST00000612417.4:c.1395T>C ENSP00000478360.1:p.Ser465=
ENST00000621016.4:c.1395T>C ENSP00000480664.1:p.Ser465=
NM_004360.3:c.1395T>C , LRG_301t1:c.1395T>C NP_004351.1:p.Ser465=
XM_011523488.1:c.660T>C XP_011521790.1:p.Ser220=
XM_011523489.1:c.660T>C XP_011521791.1:p.Ser220=
NM_001317184.1:c.1212T>C NP_001304113.1:p.Ser404=
NM_001317185.1:c.-154T>C NP_001304114.1:n.-154T>C
NM_001317186.1:c.-425T>C NP_001304115.1:n.-425T>C
NM_004360.4:c.1395T>C NP_004351.1:p.Ser465=
NM_004360.5:c.1395T>C MANE Select NP_004351.1:p.Ser465=
NM_001317184.2:c.1212T>C NP_001304113.1:p.Ser404=
NM_001317185.2:c.-154T>C NP_001304114.1:n.-154T>C
NM_001317186.2:c.-425T>C NP_001304115.1:n.-425T>C