Canonical Allele Identifier: CA496152711
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 765740
ClinVar RCV Id: RCV001466323
dbSNP Id: rs773044699
MyVariant Identifiers: chr16:g.68835784C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68801881C>G , CM000678.2:g.68801881C>G GRCh38
NC_000016.9:g.68835784C>G , CM000678.1:g.68835784C>G GRCh37
NC_000016.8:g.67393285C>G NCBI36
NG_008021.1:g.69590C>G , LRG_301:g.69590C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.375C>G MANE Select ENSP00000261769.4:p.Pro125=
ENST00000261769.9:c.375C>G ENSP00000261769.4:p.Pro125=
ENST00000422392.6:c.375C>G ENSP00000414946.2:p.Pro125=
ENST00000561751.1:c.142C>G
ENST00000562836.5:n.446C>G
ENST00000564676.5:n.657C>G
ENST00000564745.1:n.370C>G
ENST00000566510.5:c.375C>G ENSP00000458139.1:p.Pro125=
ENST00000566612.5:c.375C>G ENSP00000454782.1:p.Pro125=
ENST00000611625.4:c.375C>G ENSP00000481063.1:p.Pro125=
ENST00000612417.4:c.375C>G ENSP00000478360.1:p.Pro125=
ENST00000621016.4:c.375C>G ENSP00000480664.1:p.Pro125=
NM_004360.3:c.375C>G , LRG_301t1:c.375C>G NP_004351.1:p.Pro125=
XM_011523488.1:c.-361C>G XP_011521790.1:n.-361C>G
XM_011523489.1:c.-361C>G XP_011521791.1:n.-361C>G
NM_001317184.1:c.375C>G NP_001304113.1:p.Pro125=
NM_001317185.1:c.-1241C>G NP_001304114.1:n.-1241C>G
NM_001317186.1:c.-1445C>G NP_001304115.1:n.-1445C>G
NM_004360.4:c.375C>G NP_004351.1:p.Pro125=
NM_004360.5:c.375C>G MANE Select NP_004351.1:p.Pro125=
NM_001317184.2:c.375C>G NP_001304113.1:p.Pro125=
NM_001317185.2:c.-1241C>G NP_001304114.1:n.-1241C>G
NM_001317186.2:c.-1445C>G NP_001304115.1:n.-1445C>G