Canonical Allele Identifier: CA8129793
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1744673
ClinVar RCV Id: RCV002343023
dbSNP Id: rs780470521

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68738297G>T , CM000678.2:g.68738297G>T GRCh38
NC_000016.9:g.68772200G>T , CM000678.1:g.68772200G>T GRCh37
NC_000016.8:g.67329701G>T NCBI36
NG_008021.1:g.6006G>T , LRG_301:g.6006G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000261769.10:c.49G>T MANE Select ENSP00000261769.4:p.Val17Phe
ENST00000261769.9:c.49G>T ENSP00000261769.4:p.Val17Phe
ENST00000422392.6:c.49G>T ENSP00000414946.2:p.Val17Phe
ENST00000566510.5:c.49G>T ENSP00000458139.1:p.Val17Phe
ENST00000566612.5:c.49G>T ENSP00000454782.1:p.Val17Phe
ENST00000611625.4:c.49G>T ENSP00000481063.1:p.Val17Phe
ENST00000612417.4:c.49G>T ENSP00000478360.1:p.Val17Phe
ENST00000621016.4:c.49G>T ENSP00000480664.1:p.Val17Phe
NM_004360.3:c.49G>T , LRG_301t1:c.49G>T NP_004351.1:p.Val17Phe
NM_001317184.1:c.49G>T NP_001304113.1:p.Val17Phe
NM_001317185.1:c.-1567G>T NP_001304114.1:n.-1567G>T
NM_001317186.1:c.-1771G>T NP_001304115.1:n.-1771G>T
NM_004360.4:c.49G>T NP_004351.1:p.Val17Phe
NM_004360.5:c.49G>T MANE Select NP_004351.1:p.Val17Phe
NM_001317184.2:c.49G>T NP_001304113.1:p.Val17Phe
NM_001317185.2:c.-1567G>T NP_001304114.1:n.-1567G>T
NM_001317186.2:c.-1771G>T NP_001304115.1:n.-1771G>T