Canonical Allele Identifier: CA396471352
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 928061
ClinVar RCV Id: RCV001191712 RCV002559199
dbSNP Id: rs1236811420
gnomAD v4: 16-68829787-T-G
MyVariant Identifiers: chr16:g.68863690T>G (hg19) chr16:g.68829787T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68829787T>G , CM000678.2:g.68829787T>G GRCh38
NC_000016.9:g.68863690T>G , CM000678.1:g.68863690T>G GRCh37
NC_000016.8:g.67421191T>G NCBI36
NG_008021.1:g.97496T>G , LRG_301:g.97496T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2429T>G MANE Select ENSP00000261769.4:p.Phe810Cys
ENST00000261769.9:c.2429T>G ENSP00000261769.4:p.Phe810Cys
ENST00000422392.6:c.2246T>G ENSP00000414946.2:p.Phe749Cys
ENST00000562118.1:n.647T>G
ENST00000562836.5:n.2500T>G
ENST00000566510.5:c.*1095T>G ENSP00000458139.1:n.*1095T>G
ENST00000566612.5:c.*669T>G ENSP00000454782.1:n.*669T>G
ENST00000611625.4:c.2492T>G ENSP00000481063.1:p.Phe831Cys
ENST00000612417.4:c.1853+3233T>G ENSP00000478360.1:n.1853+3233T>G
ENST00000621016.4:c.1866-4416T>G ENSP00000480664.1:n.1866-4416T>G
NM_004360.3:c.2429T>G , LRG_301t1:c.2429T>G NP_004351.1:p.Phe810Cys
XM_011523488.1:c.1694T>G XP_011521790.1:p.Phe565Cys
XM_011523489.1:c.1694T>G XP_011521791.1:p.Phe565Cys
NM_001317184.1:c.2246T>G NP_001304113.1:p.Phe749Cys
NM_001317185.1:c.881T>G NP_001304114.1:p.Phe294Cys
NM_001317186.1:c.464T>G NP_001304115.1:p.Phe155Cys
NM_004360.4:c.2429T>G NP_004351.1:p.Phe810Cys
NM_004360.5:c.2429T>G MANE Select NP_004351.1:p.Phe810Cys
NM_001317184.2:c.2246T>G NP_001304113.1:p.Phe749Cys
NM_001317185.2:c.881T>G NP_001304114.1:p.Phe294Cys
NM_001317186.2:c.464T>G NP_001304115.1:p.Phe155Cys
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