Canonical Allele Identifier: CA496392539
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1779649
ClinVar RCV Id: RCV002401713
dbSNP Id: rs2152138243
MyVariant Identifiers: chr16:g.68855956G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68822053G>A , CM000678.2:g.68822053G>A GRCh38
NC_000016.9:g.68855956G>A , CM000678.1:g.68855956G>A GRCh37
NC_000016.8:g.67413457G>A NCBI36
NG_008021.1:g.89762G>A , LRG_301:g.89762G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.1764G>A MANE Select ENSP00000261769.4:p.Val588=
ENST00000261769.9:c.1764G>A ENSP00000261769.4:p.Val588=
ENST00000422392.6:c.1581G>A ENSP00000414946.2:p.Val527=
ENST00000562836.5:n.1835G>A
ENST00000566510.5:c.*430G>A ENSP00000458139.1:n.*430G>A
ENST00000566612.5:c.*4G>A ENSP00000454782.1:n.*4G>A
ENST00000611625.4:c.1827G>A ENSP00000481063.1:p.Val609=
ENST00000612417.4:c.1764G>A ENSP00000478360.1:p.Val588=
ENST00000621016.4:c.1764G>A ENSP00000480664.1:p.Val588=
NM_004360.3:c.1764G>A , LRG_301t1:c.1764G>A NP_004351.1:p.Val588=
XM_011523488.1:c.1029G>A XP_011521790.1:p.Val343=
XM_011523489.1:c.1029G>A XP_011521791.1:p.Val343=
NM_001317184.1:c.1581G>A NP_001304113.1:p.Val527=
NM_001317185.1:c.216G>A NP_001304114.1:p.Val72=
NM_001317186.1:c.-202G>A NP_001304115.1:n.-202G>A
NM_004360.4:c.1764G>A NP_004351.1:p.Val588=
NM_004360.5:c.1764G>A MANE Select NP_004351.1:p.Val588=
NM_001317184.2:c.1581G>A NP_001304113.1:p.Val527=
NM_001317185.2:c.216G>A NP_001304114.1:p.Val72=
NM_001317186.2:c.-202G>A NP_001304115.1:n.-202G>A