Canonical Allele Identifier: CA396470993
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1478835
ClinVar RCV Id: RCV001974377
dbSNP Id: rs2152142308
MyVariant Identifiers: chr16:g.68863608A>G (hg19) chr16:g.68829705A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68829705A>G , CM000678.2:g.68829705A>G GRCh38
NC_000016.9:g.68863608A>G , CM000678.1:g.68863608A>G GRCh37
NC_000016.8:g.67421109A>G NCBI36
NG_008021.1:g.97414A>G , LRG_301:g.97414A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2347A>G MANE Select ENSP00000261769.4:p.Thr783Ala
ENST00000261769.9:c.2347A>G ENSP00000261769.4:p.Thr783Ala
ENST00000422392.6:c.2164A>G ENSP00000414946.2:p.Thr722Ala
ENST00000562118.1:n.565A>G
ENST00000562836.5:n.2418A>G
ENST00000566510.5:c.*1013A>G ENSP00000458139.1:n.*1013A>G
ENST00000566612.5:c.*587A>G ENSP00000454782.1:n.*587A>G
ENST00000611625.4:c.2410A>G ENSP00000481063.1:p.Thr804Ala
ENST00000612417.4:c.1853+3151A>G ENSP00000478360.1:n.1853+3151A>G
ENST00000621016.4:c.1866-4498A>G ENSP00000480664.1:n.1866-4498A>G
NM_004360.3:c.2347A>G , LRG_301t1:c.2347A>G NP_004351.1:p.Thr783Ala
XM_011523488.1:c.1612A>G XP_011521790.1:p.Thr538Ala
XM_011523489.1:c.1612A>G XP_011521791.1:p.Thr538Ala
NM_001317184.1:c.2164A>G NP_001304113.1:p.Thr722Ala
NM_001317185.1:c.799A>G NP_001304114.1:p.Thr267Ala
NM_001317186.1:c.382A>G NP_001304115.1:p.Thr128Ala
NM_004360.4:c.2347A>G NP_004351.1:p.Thr783Ala
NM_004360.5:c.2347A>G MANE Select NP_004351.1:p.Thr783Ala
NM_001317184.2:c.2164A>G NP_001304113.1:p.Thr722Ala
NM_001317185.2:c.799A>G NP_001304114.1:p.Thr267Ala
NM_001317186.2:c.382A>G NP_001304115.1:p.Thr128Ala
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