Canonical Allele Identifier: CA396464802
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 479518
ClinVar RCV Id: RCV000561178 RCV000702111 RCV003328407
dbSNP Id: rs876659716
MyVariant Identifiers: chr16:g.68853186T>A (hg19) chr16:g.68819283T>A (hg38)
ERepo: CA396464802/MONDO:0007648/007 CA396464802/MONDO:0100488/007
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68819283T>A , CM000678.2:g.68819283T>A GRCh38
NC_000016.9:g.68853186T>A , CM000678.1:g.68853186T>A GRCh37
NC_000016.8:g.67410687T>A NCBI36
NG_008021.1:g.86992T>A , LRG_301:g.86992T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.1569T>A MANE Select ENSP00000261769.4:p.Tyr523Ter
ENST00000261769.9:c.1569T>A ENSP00000261769.4:p.Tyr523Ter
ENST00000422392.6:c.1386T>A ENSP00000414946.2:p.Tyr462Ter
ENST00000562836.5:n.1640T>A
ENST00000566510.5:c.*235T>A ENSP00000458139.1:n.*235T>A
ENST00000566612.5:c.1566-2718T>A ENSP00000454782.1:n.1566-2718T>A
ENST00000611625.4:c.1632T>A ENSP00000481063.1:p.Tyr544Ter
ENST00000612417.4:c.1569T>A ENSP00000478360.1:p.Tyr523Ter
ENST00000621016.4:c.1569T>A ENSP00000480664.1:p.Tyr523Ter
NM_004360.3:c.1569T>A , LRG_301t1:c.1569T>A NP_004351.1:p.Tyr523Ter
XM_011523488.1:c.834T>A XP_011521790.1:p.Tyr278Ter
XM_011523489.1:c.834T>A XP_011521791.1:p.Tyr278Ter
NM_001317184.1:c.1386T>A NP_001304113.1:p.Tyr462Ter
NM_001317185.1:c.21T>A NP_001304114.1:p.Tyr7Ter
NM_001317186.1:c.-254-2718T>A NP_001304115.1:n.-254-2718T>A
NM_004360.4:c.1569T>A NP_004351.1:p.Tyr523Ter
NM_004360.5:c.1569T>A MANE Select NP_004351.1:p.Tyr523Ter
NM_001317184.2:c.1386T>A NP_001304113.1:p.Tyr462Ter
NM_001317185.2:c.21T>A NP_001304114.1:p.Tyr7Ter
NM_001317186.2:c.-254-2718T>A NP_001304115.1:n.-254-2718T>A
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