Canonical Allele Identifier: CA496393201
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1141706
ClinVar RCV Id: RCV001479253
dbSNP Id: rs2152144154
MyVariant Identifiers: chr16:g.68867345A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68833442A>G , CM000678.2:g.68833442A>G GRCh38
NC_000016.9:g.68867345A>G , CM000678.1:g.68867345A>G GRCh37
NC_000016.8:g.67424846A>G NCBI36
NG_008021.1:g.101151A>G , LRG_301:g.101151A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2592A>G MANE Select ENSP00000261769.4:p.Glu864=
ENST00000261769.9:c.2592A>G ENSP00000261769.4:p.Glu864=
ENST00000422392.6:c.2409A>G ENSP00000414946.2:p.Glu803=
ENST00000562118.1:n.810A>G
ENST00000562836.5:n.2663A>G
ENST00000566510.5:c.*1258A>G ENSP00000458139.1:n.*1258A>G
ENST00000566612.5:c.*832A>G ENSP00000454782.1:n.*832A>G
ENST00000611625.4:c.2655A>G ENSP00000481063.1:p.Glu885=
ENST00000612417.4:c.1854-749A>G ENSP00000478360.1:n.1854-749A>G
ENST00000621016.4:c.1866-761A>G ENSP00000480664.1:n.1866-761A>G
NM_004360.3:c.2592A>G , LRG_301t1:c.2592A>G NP_004351.1:p.Glu864=
XM_011523488.1:c.1857A>G XP_011521790.1:p.Glu619=
XM_011523489.1:c.1857A>G XP_011521791.1:p.Glu619=
NM_001317184.1:c.2409A>G NP_001304113.1:p.Glu803=
NM_001317185.1:c.1044A>G NP_001304114.1:p.Glu348=
NM_001317186.1:c.627A>G NP_001304115.1:p.Glu209=
NM_004360.4:c.2592A>G NP_004351.1:p.Glu864=
NM_004360.5:c.2592A>G MANE Select NP_004351.1:p.Glu864=
NM_001317184.2:c.2409A>G NP_001304113.1:p.Glu803=
NM_001317185.2:c.1044A>G NP_001304114.1:p.Glu348=
NM_001317186.2:c.627A>G NP_001304115.1:p.Glu209=