Canonical Allele Identifier: CA396471014
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1423040
ClinVar RCV Id: RCV001926434
dbSNP Id: rs2152142322
MyVariant Identifiers: chr16:g.68863615A>G (hg19) chr16:g.68829712A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68829712A>G , CM000678.2:g.68829712A>G GRCh38
NC_000016.9:g.68863615A>G , CM000678.1:g.68863615A>G GRCh37
NC_000016.8:g.67421116A>G NCBI36
NG_008021.1:g.97421A>G , LRG_301:g.97421A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2354A>G MANE Select ENSP00000261769.4:p.Asn785Ser
ENST00000261769.9:c.2354A>G ENSP00000261769.4:p.Asn785Ser
ENST00000422392.6:c.2171A>G ENSP00000414946.2:p.Asn724Ser
ENST00000562118.1:n.572A>G
ENST00000562836.5:n.2425A>G
ENST00000566510.5:c.*1020A>G ENSP00000458139.1:n.*1020A>G
ENST00000566612.5:c.*594A>G ENSP00000454782.1:n.*594A>G
ENST00000611625.4:c.2417A>G ENSP00000481063.1:p.Asn806Ser
ENST00000612417.4:c.1853+3158A>G ENSP00000478360.1:n.1853+3158A>G
ENST00000621016.4:c.1866-4491A>G ENSP00000480664.1:n.1866-4491A>G
NM_004360.3:c.2354A>G , LRG_301t1:c.2354A>G NP_004351.1:p.Asn785Ser
XM_011523488.1:c.1619A>G XP_011521790.1:p.Asn540Ser
XM_011523489.1:c.1619A>G XP_011521791.1:p.Asn540Ser
NM_001317184.1:c.2171A>G NP_001304113.1:p.Asn724Ser
NM_001317185.1:c.806A>G NP_001304114.1:p.Asn269Ser
NM_001317186.1:c.389A>G NP_001304115.1:p.Asn130Ser
NM_004360.4:c.2354A>G NP_004351.1:p.Asn785Ser
NM_004360.5:c.2354A>G MANE Select NP_004351.1:p.Asn785Ser
NM_001317184.2:c.2171A>G NP_001304113.1:p.Asn724Ser
NM_001317185.2:c.806A>G NP_001304114.1:p.Asn269Ser
NM_001317186.2:c.389A>G NP_001304115.1:p.Asn130Ser
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