Canonical Allele Identifier: CA396457352
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 483227
ClinVar RCV Id: RCV000567076 RCV000807991 RCV003328416
dbSNP Id: rs1555514464
MyVariant Identifiers: chr16:g.68835717G>A (hg19) chr16:g.68801814G>A (hg38)
ERepo: CA396457352/MONDO:0007648/007 CA396457352/MONDO:0100488/007
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68801814G>A , CM000678.2:g.68801814G>A GRCh38
NC_000016.9:g.68835717G>A , CM000678.1:g.68835717G>A GRCh37
NC_000016.8:g.67393218G>A NCBI36
NG_008021.1:g.69523G>A , LRG_301:g.69523G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.308G>A MANE Select ENSP00000261769.4:p.Trp103Ter
ENST00000261769.9:c.308G>A ENSP00000261769.4:p.Trp103Ter
ENST00000422392.6:c.308G>A ENSP00000414946.2:p.Trp103Ter
ENST00000561751.1:c.75G>A
ENST00000562836.5:n.379G>A
ENST00000564676.5:n.590G>A
ENST00000564745.1:n.303G>A
ENST00000566510.5:c.308G>A ENSP00000458139.1:p.Trp103Ter
ENST00000566612.5:c.308G>A ENSP00000454782.1:p.Trp103Ter
ENST00000611625.4:c.308G>A ENSP00000481063.1:p.Trp103Ter
ENST00000612417.4:c.308G>A ENSP00000478360.1:p.Trp103Ter
ENST00000621016.4:c.308G>A ENSP00000480664.1:p.Trp103Ter
NM_004360.3:c.308G>A , LRG_301t1:c.308G>A NP_004351.1:p.Trp103Ter
XM_011523488.1:c.-428G>A XP_011521790.1:n.-428G>A
XM_011523489.1:c.-428G>A XP_011521791.1:n.-428G>A
NM_001317184.1:c.308G>A NP_001304113.1:p.Trp103Ter
NM_001317185.1:c.-1308G>A NP_001304114.1:n.-1308G>A
NM_001317186.1:c.-1512G>A NP_001304115.1:n.-1512G>A
NM_004360.4:c.308G>A NP_004351.1:p.Trp103Ter
NM_004360.5:c.308G>A MANE Select NP_004351.1:p.Trp103Ter
NM_001317184.2:c.308G>A NP_001304113.1:p.Trp103Ter
NM_001317185.2:c.-1308G>A NP_001304114.1:n.-1308G>A
NM_001317186.2:c.-1512G>A NP_001304115.1:n.-1512G>A
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