Canonical Allele Identifier: CA396470969
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1382236
ClinVar RCV Id: RCV001897522
dbSNP Id: rs2152142305
MyVariant Identifiers: chr16:g.68863605G>A (hg19) chr16:g.68829702G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68829702G>A , CM000678.2:g.68829702G>A GRCh38
NC_000016.9:g.68863605G>A , CM000678.1:g.68863605G>A GRCh37
NC_000016.8:g.67421106G>A NCBI36
NG_008021.1:g.97411G>A , LRG_301:g.97411G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2344G>A MANE Select ENSP00000261769.4:p.Val782Met
ENST00000261769.9:c.2344G>A ENSP00000261769.4:p.Val782Met
ENST00000422392.6:c.2161G>A ENSP00000414946.2:p.Val721Met
ENST00000562118.1:n.562G>A
ENST00000562836.5:n.2415G>A
ENST00000566510.5:c.*1010G>A ENSP00000458139.1:n.*1010G>A
ENST00000566612.5:c.*584G>A ENSP00000454782.1:n.*584G>A
ENST00000611625.4:c.2407G>A ENSP00000481063.1:p.Val803Met
ENST00000612417.4:c.1853+3148G>A ENSP00000478360.1:n.1853+3148G>A
ENST00000621016.4:c.1866-4501G>A ENSP00000480664.1:n.1866-4501G>A
NM_004360.3:c.2344G>A , LRG_301t1:c.2344G>A NP_004351.1:p.Val782Met
XM_011523488.1:c.1609G>A XP_011521790.1:p.Val537Met
XM_011523489.1:c.1609G>A XP_011521791.1:p.Val537Met
NM_001317184.1:c.2161G>A NP_001304113.1:p.Val721Met
NM_001317185.1:c.796G>A NP_001304114.1:p.Val266Met
NM_001317186.1:c.379G>A NP_001304115.1:p.Val127Met
NM_004360.4:c.2344G>A NP_004351.1:p.Val782Met
NM_004360.5:c.2344G>A MANE Select NP_004351.1:p.Val782Met
NM_001317184.2:c.2161G>A NP_001304113.1:p.Val721Met
NM_001317185.2:c.796G>A NP_001304114.1:p.Val266Met
NM_001317186.2:c.379G>A NP_001304115.1:p.Val127Met
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