Canonical Allele Identifier: CA396457473
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1317360
ClinVar RCV Id: RCV001759232 RCV002343839
dbSNP Id: rs1555514482
COSMIC: COSM20832
MyVariant Identifiers: chr16:g.68835776C>T (hg19) chr16:g.68801873C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68801873C>T , CM000678.2:g.68801873C>T GRCh38
NC_000016.9:g.68835776C>T , CM000678.1:g.68835776C>T GRCh37
NC_000016.8:g.67393277C>T NCBI36
NG_008021.1:g.69582C>T , LRG_301:g.69582C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.367C>T MANE Select ENSP00000261769.4:p.His123Tyr
ENST00000261769.9:c.367C>T ENSP00000261769.4:p.His123Tyr
ENST00000422392.6:c.367C>T ENSP00000414946.2:p.His123Tyr
ENST00000561751.1:c.134C>T
ENST00000562836.5:n.438C>T
ENST00000564676.5:n.649C>T
ENST00000564745.1:n.362C>T
ENST00000566510.5:c.367C>T ENSP00000458139.1:p.His123Tyr
ENST00000566612.5:c.367C>T ENSP00000454782.1:p.His123Tyr
ENST00000611625.4:c.367C>T ENSP00000481063.1:p.His123Tyr
ENST00000612417.4:c.367C>T ENSP00000478360.1:p.His123Tyr
ENST00000621016.4:c.367C>T ENSP00000480664.1:p.His123Tyr
NM_004360.3:c.367C>T , LRG_301t1:c.367C>T NP_004351.1:p.His123Tyr
XM_011523488.1:c.-369C>T XP_011521790.1:n.-369C>T
XM_011523489.1:c.-369C>T XP_011521791.1:n.-369C>T
NM_001317184.1:c.367C>T NP_001304113.1:p.His123Tyr
NM_001317185.1:c.-1249C>T NP_001304114.1:n.-1249C>T
NM_001317186.1:c.-1453C>T NP_001304115.1:n.-1453C>T
NM_004360.4:c.367C>T NP_004351.1:p.His123Tyr
NM_004360.5:c.367C>T MANE Select NP_004351.1:p.His123Tyr
NM_001317184.2:c.367C>T NP_001304113.1:p.His123Tyr
NM_001317185.2:c.-1249C>T NP_001304114.1:n.-1249C>T
NM_001317186.2:c.-1453C>T NP_001304115.1:n.-1453C>T
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