Canonical Allele Identifier: CA396472503
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2014501
ClinVar RCV Id: RCV002861526
dbSNP Id: rs2152144105
gnomAD v4: 16-68833420-A-G
MyVariant Identifiers: chr16:g.68867323A>G (hg19) chr16:g.68833420A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68833420A>G , CM000678.2:g.68833420A>G GRCh38
NC_000016.9:g.68867323A>G , CM000678.1:g.68867323A>G GRCh37
NC_000016.8:g.67424824A>G NCBI36
NG_008021.1:g.101129A>G , LRG_301:g.101129A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2570A>G MANE Select ENSP00000261769.4:p.Gln857Arg
ENST00000261769.9:c.2570A>G ENSP00000261769.4:p.Gln857Arg
ENST00000422392.6:c.2387A>G ENSP00000414946.2:p.Gln796Arg
ENST00000562118.1:n.788A>G
ENST00000562836.5:n.2641A>G
ENST00000566510.5:c.*1236A>G ENSP00000458139.1:n.*1236A>G
ENST00000566612.5:c.*810A>G ENSP00000454782.1:n.*810A>G
ENST00000611625.4:c.2633A>G ENSP00000481063.1:p.Gln878Arg
ENST00000612417.4:c.1854-771A>G ENSP00000478360.1:n.1854-771A>G
ENST00000621016.4:c.1866-783A>G ENSP00000480664.1:n.1866-783A>G
NM_004360.3:c.2570A>G , LRG_301t1:c.2570A>G NP_004351.1:p.Gln857Arg
XM_011523488.1:c.1835A>G XP_011521790.1:p.Gln612Arg
XM_011523489.1:c.1835A>G XP_011521791.1:p.Gln612Arg
NM_001317184.1:c.2387A>G NP_001304113.1:p.Gln796Arg
NM_001317185.1:c.1022A>G NP_001304114.1:p.Gln341Arg
NM_001317186.1:c.605A>G NP_001304115.1:p.Gln202Arg
NM_004360.4:c.2570A>G NP_004351.1:p.Gln857Arg
NM_004360.5:c.2570A>G MANE Select NP_004351.1:p.Gln857Arg
NM_001317184.2:c.2387A>G NP_001304113.1:p.Gln796Arg
NM_001317185.2:c.1022A>G NP_001304114.1:p.Gln341Arg
NM_001317186.2:c.605A>G NP_001304115.1:p.Gln202Arg
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