Canonical Allele Identifier: CA496157363
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1654068
ClinVar RCV Id: RCV002163684
dbSNP Id: rs2152142262
MyVariant Identifiers: chr16:g.68863580C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68829677C>T , CM000678.2:g.68829677C>T GRCh38
NC_000016.9:g.68863580C>T , CM000678.1:g.68863580C>T GRCh37
NC_000016.8:g.67421081C>T NCBI36
NG_008021.1:g.97386C>T , LRG_301:g.97386C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2319C>T MANE Select ENSP00000261769.4:p.His773=
ENST00000261769.9:c.2319C>T ENSP00000261769.4:p.His773=
ENST00000422392.6:c.2136C>T ENSP00000414946.2:p.His712=
ENST00000562118.1:n.537C>T
ENST00000562836.5:n.2390C>T
ENST00000566510.5:c.*985C>T ENSP00000458139.1:n.*985C>T
ENST00000566612.5:c.*559C>T ENSP00000454782.1:n.*559C>T
ENST00000611625.4:c.2382C>T ENSP00000481063.1:p.His794=
ENST00000612417.4:c.1853+3123C>T ENSP00000478360.1:n.1853+3123C>T
ENST00000621016.4:c.1866-4526C>T ENSP00000480664.1:n.1866-4526C>T
NM_004360.3:c.2319C>T , LRG_301t1:c.2319C>T NP_004351.1:p.His773=
XM_011523488.1:c.1584C>T XP_011521790.1:p.His528=
XM_011523489.1:c.1584C>T XP_011521791.1:p.His528=
NM_001317184.1:c.2136C>T NP_001304113.1:p.His712=
NM_001317185.1:c.771C>T NP_001304114.1:p.His257=
NM_001317186.1:c.354C>T NP_001304115.1:p.His118=
NM_004360.4:c.2319C>T NP_004351.1:p.His773=
NM_004360.5:c.2319C>T MANE Select NP_004351.1:p.His773=
NM_001317184.2:c.2136C>T NP_001304113.1:p.His712=
NM_001317185.2:c.771C>T NP_001304114.1:p.His257=
NM_001317186.2:c.354C>T NP_001304115.1:p.His118=