Canonical Allele Identifier: CA349520
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 220611
dbSNP Id: rs749306433

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68801792A>G , CM000678.2:g.68801792A>G GRCh38
NC_000016.9:g.68835695A>G , CM000678.1:g.68835695A>G GRCh37
NC_000016.8:g.67393196A>G NCBI36
NG_008021.1:g.69501A>G , LRG_301:g.69501A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.286A>G MANE Select ENSP00000261769.4:p.Ile96Val
ENST00000261769.9:c.286A>G ENSP00000261769.4:p.Ile96Val
ENST00000422392.6:c.286A>G ENSP00000414946.2:p.Ile96Val
ENST00000561751.1:c.53A>G
ENST00000562836.5:n.357A>G
ENST00000564676.5:n.568A>G
ENST00000564745.1:n.281A>G
ENST00000566510.5:c.286A>G ENSP00000458139.1:p.Ile96Val
ENST00000566612.5:c.286A>G ENSP00000454782.1:p.Ile96Val
ENST00000611625.4:c.286A>G ENSP00000481063.1:p.Ile96Val
ENST00000612417.4:c.286A>G ENSP00000478360.1:p.Ile96Val
ENST00000621016.4:c.286A>G ENSP00000480664.1:p.Ile96Val
NM_004360.3:c.286A>G , LRG_301t1:c.286A>G NP_004351.1:p.Ile96Val
XM_011523488.1:c.-450A>G XP_011521790.1:n.-450A>G
XM_011523489.1:c.-450A>G XP_011521791.1:n.-450A>G
NM_001317184.1:c.286A>G NP_001304113.1:p.Ile96Val
NM_001317185.1:c.-1330A>G NP_001304114.1:n.-1330A>G
NM_001317186.1:c.-1534A>G NP_001304115.1:n.-1534A>G
NM_004360.4:c.286A>G NP_004351.1:p.Ile96Val
NM_004360.5:c.286A>G MANE Select NP_004351.1:p.Ile96Val
NM_001317184.2:c.286A>G NP_001304113.1:p.Ile96Val
NM_001317185.2:c.-1330A>G NP_001304114.1:n.-1330A>G
NM_001317186.2:c.-1534A>G NP_001304115.1:n.-1534A>G