Canonical Allele Identifier: CA348218
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 219724
ClinVar RCV Id: RCV001395730 RCV002453738
dbSNP Id: rs147968870
MyVariant Identifiers: chr16:g.68867294C>T (hg19) chr16:g.68833391C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68833391C>T , CM000678.2:g.68833391C>T GRCh38
NC_000016.9:g.68867294C>T , CM000678.1:g.68867294C>T GRCh37
NC_000016.8:g.67424795C>T NCBI36
NG_008021.1:g.101100C>T , LRG_301:g.101100C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2541C>T MANE Select ENSP00000261769.4:p.Ser847=
ENST00000261769.9:c.2541C>T ENSP00000261769.4:p.Ser847=
ENST00000422392.6:c.2358C>T ENSP00000414946.2:p.Ser786=
ENST00000562118.1:n.759C>T
ENST00000562836.5:n.2612C>T
ENST00000566510.5:c.*1207C>T ENSP00000458139.1:n.*1207C>T
ENST00000566612.5:c.*781C>T ENSP00000454782.1:n.*781C>T
ENST00000611625.4:c.2604C>T ENSP00000481063.1:p.Ser868=
ENST00000612417.4:c.1854-800C>T ENSP00000478360.1:n.1854-800C>T
ENST00000621016.4:c.1866-812C>T ENSP00000480664.1:n.1866-812C>T
NM_004360.3:c.2541C>T , LRG_301t1:c.2541C>T NP_004351.1:p.Ser847=
XM_011523488.1:c.1806C>T XP_011521790.1:p.Ser602=
XM_011523489.1:c.1806C>T XP_011521791.1:p.Ser602=
NM_001317184.1:c.2358C>T NP_001304113.1:p.Ser786=
NM_001317185.1:c.993C>T NP_001304114.1:p.Ser331=
NM_001317186.1:c.576C>T NP_001304115.1:p.Ser192=
NM_004360.4:c.2541C>T NP_004351.1:p.Ser847=
NM_004360.5:c.2541C>T MANE Select NP_004351.1:p.Ser847=
NM_001317184.2:c.2358C>T NP_001304113.1:p.Ser786=
NM_001317185.2:c.993C>T NP_001304114.1:p.Ser331=
NM_001317186.2:c.576C>T NP_001304115.1:p.Ser192=
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