Canonical Allele Identifier: CA396471334
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 578300
ClinVar RCV Id: RCV000701265 RCV002442503
dbSNP Id: rs1427872591
gnomAD v2: 16-68863687-A-G
gnomAD v3: 16-68829784-A-G
gnomAD v4: 16-68829784-A-G
MyVariant Identifiers: chr16:g.68863687A>G (hg19) chr16:g.68829784A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68829784A>G , CM000678.2:g.68829784A>G GRCh38
NC_000016.9:g.68863687A>G , CM000678.1:g.68863687A>G GRCh37
NC_000016.8:g.67421188A>G NCBI36
NG_008021.1:g.97493A>G , LRG_301:g.97493A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2426A>G MANE Select ENSP00000261769.4:p.Asn809Ser
ENST00000261769.9:c.2426A>G ENSP00000261769.4:p.Asn809Ser
ENST00000422392.6:c.2243A>G ENSP00000414946.2:p.Asn748Ser
ENST00000562118.1:n.644A>G
ENST00000562836.5:n.2497A>G
ENST00000566510.5:c.*1092A>G ENSP00000458139.1:n.*1092A>G
ENST00000566612.5:c.*666A>G ENSP00000454782.1:n.*666A>G
ENST00000611625.4:c.2489A>G ENSP00000481063.1:p.Asn830Ser
ENST00000612417.4:c.1853+3230A>G ENSP00000478360.1:n.1853+3230A>G
ENST00000621016.4:c.1866-4419A>G ENSP00000480664.1:n.1866-4419A>G
NM_004360.3:c.2426A>G , LRG_301t1:c.2426A>G NP_004351.1:p.Asn809Ser
XM_011523488.1:c.1691A>G XP_011521790.1:p.Asn564Ser
XM_011523489.1:c.1691A>G XP_011521791.1:p.Asn564Ser
NM_001317184.1:c.2243A>G NP_001304113.1:p.Asn748Ser
NM_001317185.1:c.878A>G NP_001304114.1:p.Asn293Ser
NM_001317186.1:c.461A>G NP_001304115.1:p.Asn154Ser
NM_004360.4:c.2426A>G NP_004351.1:p.Asn809Ser
NM_004360.5:c.2426A>G MANE Select NP_004351.1:p.Asn809Ser
NM_001317184.2:c.2243A>G NP_001304113.1:p.Asn748Ser
NM_001317185.2:c.878A>G NP_001304114.1:p.Asn293Ser
NM_001317186.2:c.461A>G NP_001304115.1:p.Asn154Ser
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