Canonical Allele Identifier: CA915949319
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 819884
ClinVar RCV Id: RCV001012808
dbSNP Id: rs1596963305

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68821996C>T , CM000678.2:g.68821996C>T GRCh38
NC_000016.9:g.68855899C>T , CM000678.1:g.68855899C>T GRCh37
NC_000016.8:g.67413400C>T NCBI36
NG_008021.1:g.89705C>T , LRG_301:g.89705C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.1712-5C>T MANE Select ENSP00000261769.4:n.1712-5C>T
ENST00000261769.9:c.1712-5C>T ENSP00000261769.4:n.1712-5C>T
ENST00000422392.6:c.1529-5C>T ENSP00000414946.2:n.1529-5C>T
ENST00000562836.5:n.1783-5C>T
ENST00000566510.5:c.*378-5C>T ENSP00000458139.1:n.*378-5C>T
ENST00000566612.5:c.1566-5C>T ENSP00000454782.1:n.1566-5C>T
ENST00000611625.4:c.1775-5C>T ENSP00000481063.1:n.1775-5C>T
ENST00000612417.4:c.1712-5C>T ENSP00000478360.1:n.1712-5C>T
ENST00000621016.4:c.1712-5C>T ENSP00000480664.1:n.1712-5C>T
NM_004360.3:c.1712-5C>T , LRG_301t1:c.1712-5C>T NP_004351.1:n.1712-5C>T
XM_011523488.1:c.977-5C>T XP_011521790.1:n.977-5C>T
XM_011523489.1:c.977-5C>T XP_011521791.1:n.977-5C>T
NM_001317184.1:c.1529-5C>T NP_001304113.1:n.1529-5C>T
NM_001317185.1:c.164-5C>T NP_001304114.1:n.164-5C>T
NM_001317186.1:c.-254-5C>T NP_001304115.1:n.-254-5C>T
NM_004360.4:c.1712-5C>T NP_004351.1:n.1712-5C>T
NM_004360.5:c.1712-5C>T MANE Select NP_004351.1:n.1712-5C>T
NM_001317184.2:c.1529-5C>T NP_001304113.1:n.1529-5C>T
NM_001317185.2:c.164-5C>T NP_001304114.1:n.164-5C>T
NM_001317186.2:c.-254-5C>T NP_001304115.1:n.-254-5C>T