Canonical Allele Identifier: CA396451431
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 449341
dbSNP Id: rs1440280370

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68737464G>A , CM000678.2:g.68737464G>A GRCh38
NC_000016.9:g.68771367G>A , CM000678.1:g.68771367G>A GRCh37
NC_000016.8:g.67328868G>A NCBI36
NG_008021.1:g.5173G>A , LRG_301:g.5173G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.48+1G>A MANE Select ENSP00000261769.4:n.48+1G>A
ENST00000261769.9:c.48+1G>A ENSP00000261769.4:n.48+1G>A
ENST00000422392.6:c.48+1G>A ENSP00000414946.2:n.48+1G>A
ENST00000566510.5:c.48+1G>A ENSP00000458139.1:n.48+1G>A
ENST00000566612.5:c.48+1G>A ENSP00000454782.1:n.48+1G>A
ENST00000611625.4:c.48+1G>A ENSP00000481063.1:n.48+1G>A
ENST00000612417.4:c.48+1G>A ENSP00000478360.1:n.48+1G>A
ENST00000621016.4:c.48+1G>A ENSP00000480664.1:n.48+1G>A
NM_004360.3:c.48+1G>A , LRG_301t1:c.48+1G>A NP_004351.1:n.48+1G>A
NM_001317184.1:c.48+1G>A NP_001304113.1:n.48+1G>A
NM_001317185.1:c.-1568+1G>A NP_001304114.1:n.-1568+1G>A
NM_001317186.1:c.-1772+1G>A NP_001304115.1:n.-1772+1G>A
NM_004360.4:c.48+1G>A NP_004351.1:n.48+1G>A
NM_004360.5:c.48+1G>A MANE Select NP_004351.1:n.48+1G>A
NM_001317184.2:c.48+1G>A NP_001304113.1:n.48+1G>A
NM_001317185.2:c.-1568+1G>A NP_001304114.1:n.-1568+1G>A
NM_001317186.2:c.-1772+1G>A NP_001304115.1:n.-1772+1G>A