Canonical Allele Identifier: CA396472449
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 489857
ClinVar RCV Id: RCV000580229 RCV002248792
dbSNP Id: rs1555518257
MyVariant Identifiers: chr16:g.68867313G>A (hg19) chr16:g.68833410G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68833410G>A , CM000678.2:g.68833410G>A GRCh38
NC_000016.9:g.68867313G>A , CM000678.1:g.68867313G>A GRCh37
NC_000016.8:g.67424814G>A NCBI36
NG_008021.1:g.101119G>A , LRG_301:g.101119G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2560G>A MANE Select ENSP00000261769.4:p.Asp854Asn
ENST00000261769.9:c.2560G>A ENSP00000261769.4:p.Asp854Asn
ENST00000422392.6:c.2377G>A ENSP00000414946.2:p.Asp793Asn
ENST00000562118.1:n.778G>A
ENST00000562836.5:n.2631G>A
ENST00000566510.5:c.*1226G>A ENSP00000458139.1:n.*1226G>A
ENST00000566612.5:c.*800G>A ENSP00000454782.1:n.*800G>A
ENST00000611625.4:c.2623G>A ENSP00000481063.1:p.Asp875Asn
ENST00000612417.4:c.1854-781G>A ENSP00000478360.1:n.1854-781G>A
ENST00000621016.4:c.1866-793G>A ENSP00000480664.1:n.1866-793G>A
NM_004360.3:c.2560G>A , LRG_301t1:c.2560G>A NP_004351.1:p.Asp854Asn
XM_011523488.1:c.1825G>A XP_011521790.1:p.Asp609Asn
XM_011523489.1:c.1825G>A XP_011521791.1:p.Asp609Asn
NM_001317184.1:c.2377G>A NP_001304113.1:p.Asp793Asn
NM_001317185.1:c.1012G>A NP_001304114.1:p.Asp338Asn
NM_001317186.1:c.595G>A NP_001304115.1:p.Asp199Asn
NM_004360.4:c.2560G>A NP_004351.1:p.Asp854Asn
NM_004360.5:c.2560G>A MANE Select NP_004351.1:p.Asp854Asn
NM_001317184.2:c.2377G>A NP_001304113.1:p.Asp793Asn
NM_001317185.2:c.1012G>A NP_001304114.1:p.Asp338Asn
NM_001317186.2:c.595G>A NP_001304115.1:p.Asp199Asn
Search 100 bp 5'
Search 100 bp 3'