Canonical Allele Identifier: CA396470852
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 483225
ClinVar RCV Id: RCV000566685 RCV003229594
dbSNP Id: rs1555517823
MyVariant Identifiers: chr16:g.68863578C>T (hg19) chr16:g.68829675C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68829675C>T , CM000678.2:g.68829675C>T GRCh38
NC_000016.9:g.68863578C>T , CM000678.1:g.68863578C>T GRCh37
NC_000016.8:g.67421079C>T NCBI36
NG_008021.1:g.97384C>T , LRG_301:g.97384C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2317C>T MANE Select ENSP00000261769.4:p.His773Tyr
ENST00000261769.9:c.2317C>T ENSP00000261769.4:p.His773Tyr
ENST00000422392.6:c.2134C>T ENSP00000414946.2:p.His712Tyr
ENST00000562118.1:n.535C>T
ENST00000562836.5:n.2388C>T
ENST00000566510.5:c.*983C>T ENSP00000458139.1:n.*983C>T
ENST00000566612.5:c.*557C>T ENSP00000454782.1:n.*557C>T
ENST00000611625.4:c.2380C>T ENSP00000481063.1:p.His794Tyr
ENST00000612417.4:c.1853+3121C>T ENSP00000478360.1:n.1853+3121C>T
ENST00000621016.4:c.1866-4528C>T ENSP00000480664.1:n.1866-4528C>T
NM_004360.3:c.2317C>T , LRG_301t1:c.2317C>T NP_004351.1:p.His773Tyr
XM_011523488.1:c.1582C>T XP_011521790.1:p.His528Tyr
XM_011523489.1:c.1582C>T XP_011521791.1:p.His528Tyr
NM_001317184.1:c.2134C>T NP_001304113.1:p.His712Tyr
NM_001317185.1:c.769C>T NP_001304114.1:p.His257Tyr
NM_001317186.1:c.352C>T NP_001304115.1:p.His118Tyr
NM_004360.4:c.2317C>T NP_004351.1:p.His773Tyr
NM_004360.5:c.2317C>T MANE Select NP_004351.1:p.His773Tyr
NM_001317184.2:c.2134C>T NP_001304113.1:p.His712Tyr
NM_001317185.2:c.769C>T NP_001304114.1:p.His257Tyr
NM_001317186.2:c.352C>T NP_001304115.1:p.His118Tyr
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