Canonical Allele Identifier: CA496393239
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1794281
ClinVar RCV Id: RCV002428672
dbSNP Id: rs2152144280
MyVariant Identifiers: chr16:g.68867402G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68833499G>A , CM000678.2:g.68833499G>A GRCh38
NC_000016.9:g.68867402G>A , CM000678.1:g.68867402G>A GRCh37
NC_000016.8:g.67424903G>A NCBI36
NG_008021.1:g.101208G>A , LRG_301:g.101208G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2649G>A MANE Select ENSP00000261769.4:p.Ter883=
ENST00000261769.9:c.2649G>A ENSP00000261769.4:p.Ter883=
ENST00000422392.6:c.2466G>A ENSP00000414946.2:p.Ter822=
ENST00000562118.1:n.867G>A
ENST00000562836.5:n.2720G>A
ENST00000566510.5:c.*1315G>A ENSP00000458139.1:n.*1315G>A
ENST00000566612.5:c.*889G>A ENSP00000454782.1:n.*889G>A
ENST00000611625.4:c.2712G>A ENSP00000481063.1:p.Ter904=
ENST00000612417.4:c.1854-692G>A ENSP00000478360.1:n.1854-692G>A
ENST00000621016.4:c.1866-704G>A ENSP00000480664.1:n.1866-704G>A
NM_004360.3:c.2649G>A , LRG_301t1:c.2649G>A NP_004351.1:p.Ter883=
XM_011523488.1:c.1914G>A XP_011521790.1:p.Ter638=
XM_011523489.1:c.1914G>A XP_011521791.1:p.Ter638=
NM_001317184.1:c.2466G>A NP_001304113.1:p.Ter822=
NM_001317185.1:c.1101G>A NP_001304114.1:p.Ter367=
NM_001317186.1:c.684G>A NP_001304115.1:p.Ter228=
NM_004360.4:c.2649G>A NP_004351.1:p.Ter883=
NM_004360.5:c.2649G>A MANE Select NP_004351.1:p.Ter883=
NM_001317184.2:c.2466G>A NP_001304113.1:p.Ter822=
NM_001317185.2:c.1101G>A NP_001304114.1:p.Ter367=
NM_001317186.2:c.684G>A NP_001304115.1:p.Ter228=