Canonical Allele Identifier: CA396472191
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3224177
ClinVar RCV Id: RCV004518903
dbSNP Id: rs1961536081
MyVariant Identifiers: chr16:g.68867255C>G (hg19) chr16:g.68833352C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68833352C>G , CM000678.2:g.68833352C>G GRCh38
NC_000016.9:g.68867255C>G , CM000678.1:g.68867255C>G GRCh37
NC_000016.8:g.67424756C>G NCBI36
NG_008021.1:g.101061C>G , LRG_301:g.101061C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2502C>G MANE Select ENSP00000261769.4:p.Asp834Glu
ENST00000261769.9:c.2502C>G ENSP00000261769.4:p.Asp834Glu
ENST00000422392.6:c.2319C>G ENSP00000414946.2:p.Asp773Glu
ENST00000562118.1:n.720C>G
ENST00000562836.5:n.2573C>G
ENST00000566510.5:c.*1168C>G ENSP00000458139.1:n.*1168C>G
ENST00000566612.5:c.*742C>G ENSP00000454782.1:n.*742C>G
ENST00000611625.4:c.2565C>G ENSP00000481063.1:p.Asp855Glu
ENST00000612417.4:c.1854-839C>G ENSP00000478360.1:n.1854-839C>G
ENST00000621016.4:c.1866-851C>G ENSP00000480664.1:n.1866-851C>G
NM_004360.3:c.2502C>G , LRG_301t1:c.2502C>G NP_004351.1:p.Asp834Glu
XM_011523488.1:c.1767C>G XP_011521790.1:p.Asp589Glu
XM_011523489.1:c.1767C>G XP_011521791.1:p.Asp589Glu
NM_001317184.1:c.2319C>G NP_001304113.1:p.Asp773Glu
NM_001317185.1:c.954C>G NP_001304114.1:p.Asp318Glu
NM_001317186.1:c.537C>G NP_001304115.1:p.Asp179Glu
NM_004360.4:c.2502C>G NP_004351.1:p.Asp834Glu
NM_004360.5:c.2502C>G MANE Select NP_004351.1:p.Asp834Glu
NM_001317184.2:c.2319C>G NP_001304113.1:p.Asp773Glu
NM_001317185.2:c.954C>G NP_001304114.1:p.Asp318Glu
NM_001317186.2:c.537C>G NP_001304115.1:p.Asp179Glu
Search 100 bp 5'
Search 100 bp 3'