Canonical Allele Identifier: CA396451185
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 486826
ClinVar RCV Id: RCV000639234 RCV001310106 RCV000566678 RCV003328425
dbSNP Id: rs1555509623
MyVariant Identifiers: chr16:g.68771320T>C (hg19) chr16:g.68737417T>C (hg38)
PubMed: PMID:16061854 PMID:20373070 PMID:20719348
ERepo: CA396451185/MONDO:0007648/007 CA396451185/MONDO:0100488/007
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68737417T>C , CM000678.2:g.68737417T>C GRCh38
NC_000016.9:g.68771320T>C , CM000678.1:g.68771320T>C GRCh37
NC_000016.8:g.67328821T>C NCBI36
NG_008021.1:g.5126T>C , LRG_301:g.5126T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2T>C MANE Select ENSP00000261769.4:p.Met1Thr
ENST00000261769.9:c.2T>C ENSP00000261769.4:p.Met1Thr
ENST00000422392.6:c.2T>C ENSP00000414946.2:p.Met1Thr
ENST00000566510.5:c.2T>C ENSP00000458139.1:p.Met1Thr
ENST00000566612.5:c.2T>C ENSP00000454782.1:p.Met1Thr
ENST00000611625.4:c.2T>C ENSP00000481063.1:p.Met1Thr
ENST00000612417.4:c.2T>C ENSP00000478360.1:p.Met1Thr
ENST00000621016.4:c.2T>C ENSP00000480664.1:p.Met1Thr
NM_004360.3:c.2T>C , LRG_301t1:c.2T>C NP_004351.1:p.Met1Thr
NM_001317184.1:c.2T>C NP_001304113.1:p.Met1Thr
NM_001317185.1:c.-1614T>C NP_001304114.1:n.-1614T>C
NM_001317186.1:c.-1818T>C NP_001304115.1:n.-1818T>C
NM_004360.4:c.2T>C NP_004351.1:p.Met1Thr
NM_004360.5:c.2T>C MANE Select NP_004351.1:p.Met1Thr
NM_001317184.2:c.2T>C NP_001304113.1:p.Met1Thr
NM_001317185.2:c.-1614T>C NP_001304114.1:n.-1614T>C
NM_001317186.2:c.-1818T>C NP_001304115.1:n.-1818T>C
Search 100 bp 5'
Search 100 bp 3'