Canonical Allele Identifier: CA496154063
Gene: CDH1 HGNC NCBI

Linked Data

dbSNP Id: rs2152134958
MyVariant Identifiers: chr16:g.68849558G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68815655G>C , CM000678.2:g.68815655G>C GRCh38
NC_000016.9:g.68849558G>C , CM000678.1:g.68849558G>C GRCh37
NC_000016.8:g.67407059G>C NCBI36
NG_008021.1:g.83364G>C , LRG_301:g.83364G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.1461G>C MANE Select ENSP00000261769.4:p.Val487=
ENST00000261769.9:c.1461G>C ENSP00000261769.4:p.Val487=
ENST00000422392.6:c.1278G>C ENSP00000414946.2:p.Val426=
ENST00000562836.5:n.1532G>C
ENST00000566510.5:c.*127G>C ENSP00000458139.1:n.*127G>C
ENST00000566612.5:c.1461G>C ENSP00000454782.1:p.Val487=
ENST00000611625.4:c.1524G>C ENSP00000481063.1:p.Val508=
ENST00000612417.4:c.1461G>C ENSP00000478360.1:p.Val487=
ENST00000621016.4:c.1461G>C ENSP00000480664.1:p.Val487=
NM_004360.3:c.1461G>C , LRG_301t1:c.1461G>C NP_004351.1:p.Val487=
XM_011523488.1:c.726G>C XP_011521790.1:p.Val242=
XM_011523489.1:c.726G>C XP_011521791.1:p.Val242=
NM_001317184.1:c.1278G>C NP_001304113.1:p.Val426=
NM_001317185.1:c.-88G>C NP_001304114.1:n.-88G>C
NM_001317186.1:c.-359G>C NP_001304115.1:n.-359G>C
NM_004360.4:c.1461G>C NP_004351.1:p.Val487=
NM_004360.5:c.1461G>C MANE Select NP_004351.1:p.Val487=
NM_001317184.2:c.1278G>C NP_001304113.1:p.Val426=
NM_001317185.2:c.-88G>C NP_001304114.1:n.-88G>C
NM_001317186.2:c.-359G>C NP_001304115.1:n.-359G>C