Canonical Allele Identifier: CA396471052
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1790157
ClinVar RCV Id: RCV002448541
dbSNP Id: rs2152142330

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68829718T>C , CM000678.2:g.68829718T>C GRCh38
NC_000016.9:g.68863621T>C , CM000678.1:g.68863621T>C GRCh37
NC_000016.8:g.67421122T>C NCBI36
NG_008021.1:g.97427T>C , LRG_301:g.97427T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2360T>C MANE Select ENSP00000261769.4:p.Val787Ala
ENST00000261769.9:c.2360T>C ENSP00000261769.4:p.Val787Ala
ENST00000422392.6:c.2177T>C ENSP00000414946.2:p.Val726Ala
ENST00000562118.1:n.578T>C
ENST00000562836.5:n.2431T>C
ENST00000566510.5:c.*1026T>C ENSP00000458139.1:n.*1026T>C
ENST00000566612.5:c.*600T>C ENSP00000454782.1:n.*600T>C
ENST00000611625.4:c.2423T>C ENSP00000481063.1:p.Val808Ala
ENST00000612417.4:c.1853+3164T>C ENSP00000478360.1:n.1853+3164T>C
ENST00000621016.4:c.1866-4485T>C ENSP00000480664.1:n.1866-4485T>C
NM_004360.3:c.2360T>C , LRG_301t1:c.2360T>C NP_004351.1:p.Val787Ala
XM_011523488.1:c.1625T>C XP_011521790.1:p.Val542Ala
XM_011523489.1:c.1625T>C XP_011521791.1:p.Val542Ala
NM_001317184.1:c.2177T>C NP_001304113.1:p.Val726Ala
NM_001317185.1:c.812T>C NP_001304114.1:p.Val271Ala
NM_001317186.1:c.395T>C NP_001304115.1:p.Val132Ala
NM_004360.4:c.2360T>C NP_004351.1:p.Val787Ala
NM_004360.5:c.2360T>C MANE Select NP_004351.1:p.Val787Ala
NM_001317184.2:c.2177T>C NP_001304113.1:p.Val726Ala
NM_001317185.2:c.812T>C NP_001304114.1:p.Val271Ala
NM_001317186.2:c.395T>C NP_001304115.1:p.Val132Ala