Canonical Allele Identifier: CA10580090
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 233773
ClinVar RCV Id: RCV000217590 RCV001067759
dbSNP Id: rs115494727
COSMIC: COSM35880
MyVariant Identifiers: chr16:g.68844111C>G (hg19) chr16:g.68810208C>G (hg38)
PubMed: PMID:19593635 PMID:21727090 PMID:26518340
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68810208C>G , CM000678.2:g.68810208C>G GRCh38
NC_000016.9:g.68844111C>G , CM000678.1:g.68844111C>G GRCh37
NC_000016.8:g.67401612C>G NCBI36
NG_008021.1:g.77917C>G , LRG_301:g.77917C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.699C>G MANE Select ENSP00000261769.4:p.His233Gln
ENST00000261769.9:c.699C>G ENSP00000261769.4:p.His233Gln
ENST00000422392.6:c.699C>G ENSP00000414946.2:p.His233Gln
ENST00000561751.1:c.454+1360C>G
ENST00000562836.5:n.770C>G
ENST00000566510.5:c.543C>G ENSP00000458139.1:p.His181Gln
ENST00000566612.5:c.699C>G ENSP00000454782.1:p.His233Gln
ENST00000611625.4:c.699C>G ENSP00000481063.1:p.His233Gln
ENST00000612417.4:c.699C>G ENSP00000478360.1:p.His233Gln
ENST00000621016.4:c.699C>G ENSP00000480664.1:p.His233Gln
NM_004360.3:c.699C>G , LRG_301t1:c.699C>G NP_004351.1:p.His233Gln
XM_011523488.1:c.-37C>G XP_011521790.1:n.-37C>G
XM_011523489.1:c.-37C>G XP_011521791.1:n.-37C>G
NM_001317184.1:c.699C>G NP_001304113.1:p.His233Gln
NM_001317185.1:c.-917C>G NP_001304114.1:n.-917C>G
NM_001317186.1:c.-1121C>G NP_001304115.1:n.-1121C>G
NM_004360.4:c.699C>G NP_004351.1:p.His233Gln
NM_004360.5:c.699C>G MANE Select NP_004351.1:p.His233Gln
NM_001317184.2:c.699C>G NP_001304113.1:p.His233Gln
NM_001317185.2:c.-917C>G NP_001304114.1:n.-917C>G
NM_001317186.2:c.-1121C>G NP_001304115.1:n.-1121C>G
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