Canonical Allele Identifier: CA396472776
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2567597
ClinVar RCV Id: RCV003278590 RCV003512212
dbSNP Id: rs1457628508
MyVariant Identifiers: chr16:g.68867371C>T (hg19) chr16:g.68833468C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68833468C>T , CM000678.2:g.68833468C>T GRCh38
NC_000016.9:g.68867371C>T , CM000678.1:g.68867371C>T GRCh37
NC_000016.8:g.67424872C>T NCBI36
NG_008021.1:g.101177C>T , LRG_301:g.101177C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2618C>T MANE Select ENSP00000261769.4:p.Ala873Val
ENST00000261769.9:c.2618C>T ENSP00000261769.4:p.Ala873Val
ENST00000422392.6:c.2435C>T ENSP00000414946.2:p.Ala812Val
ENST00000562118.1:n.836C>T
ENST00000562836.5:n.2689C>T
ENST00000566510.5:c.*1284C>T ENSP00000458139.1:n.*1284C>T
ENST00000566612.5:c.*858C>T ENSP00000454782.1:n.*858C>T
ENST00000611625.4:c.2681C>T ENSP00000481063.1:p.Ala894Val
ENST00000612417.4:c.1854-723C>T ENSP00000478360.1:n.1854-723C>T
ENST00000621016.4:c.1866-735C>T ENSP00000480664.1:n.1866-735C>T
NM_004360.3:c.2618C>T , LRG_301t1:c.2618C>T NP_004351.1:p.Ala873Val
XM_011523488.1:c.1883C>T XP_011521790.1:p.Ala628Val
XM_011523489.1:c.1883C>T XP_011521791.1:p.Ala628Val
NM_001317184.1:c.2435C>T NP_001304113.1:p.Ala812Val
NM_001317185.1:c.1070C>T NP_001304114.1:p.Ala357Val
NM_001317186.1:c.653C>T NP_001304115.1:p.Ala218Val
NM_004360.4:c.2618C>T NP_004351.1:p.Ala873Val
NM_004360.5:c.2618C>T MANE Select NP_004351.1:p.Ala873Val
NM_001317184.2:c.2435C>T NP_001304113.1:p.Ala812Val
NM_001317185.2:c.1070C>T NP_001304114.1:p.Ala357Val
NM_001317186.2:c.653C>T NP_001304115.1:p.Ala218Val
Search 100 bp 5'
Search 100 bp 3'