Canonical Allele Identifier: CA396471183
Gene: CDH1 HGNC NCBI

Linked Data

dbSNP Id: rs2152142395
COSMIC: COSM1302179
MyVariant Identifiers: chr16:g.68863653C>G (hg19) chr16:g.68829750C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68829750C>G , CM000678.2:g.68829750C>G GRCh38
NC_000016.9:g.68863653C>G , CM000678.1:g.68863653C>G GRCh37
NC_000016.8:g.67421154C>G NCBI36
NG_008021.1:g.97459C>G , LRG_301:g.97459C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2392C>G MANE Select ENSP00000261769.4:p.Leu798Val
ENST00000261769.9:c.2392C>G ENSP00000261769.4:p.Leu798Val
ENST00000422392.6:c.2209C>G ENSP00000414946.2:p.Leu737Val
ENST00000562118.1:n.610C>G
ENST00000562836.5:n.2463C>G
ENST00000566510.5:c.*1058C>G ENSP00000458139.1:n.*1058C>G
ENST00000566612.5:c.*632C>G ENSP00000454782.1:n.*632C>G
ENST00000611625.4:c.2455C>G ENSP00000481063.1:p.Leu819Val
ENST00000612417.4:c.1853+3196C>G ENSP00000478360.1:n.1853+3196C>G
ENST00000621016.4:c.1866-4453C>G ENSP00000480664.1:n.1866-4453C>G
NM_004360.3:c.2392C>G , LRG_301t1:c.2392C>G NP_004351.1:p.Leu798Val
XM_011523488.1:c.1657C>G XP_011521790.1:p.Leu553Val
XM_011523489.1:c.1657C>G XP_011521791.1:p.Leu553Val
NM_001317184.1:c.2209C>G NP_001304113.1:p.Leu737Val
NM_001317185.1:c.844C>G NP_001304114.1:p.Leu282Val
NM_001317186.1:c.427C>G NP_001304115.1:p.Leu143Val
NM_004360.4:c.2392C>G NP_004351.1:p.Leu798Val
NM_004360.5:c.2392C>G MANE Select NP_004351.1:p.Leu798Val
NM_001317184.2:c.2209C>G NP_001304113.1:p.Leu737Val
NM_001317185.2:c.844C>G NP_001304114.1:p.Leu282Val
NM_001317186.2:c.427C>G NP_001304115.1:p.Leu143Val
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