Canonical Allele Identifier: CA496392578
Gene: CDH1 HGNC NCBI

Linked Data

dbSNP Id: rs1799444860
MyVariant Identifiers: chr16:g.68855995C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68822092C>T , CM000678.2:g.68822092C>T GRCh38
NC_000016.9:g.68855995C>T , CM000678.1:g.68855995C>T GRCh37
NC_000016.8:g.67413496C>T NCBI36
NG_008021.1:g.89801C>T , LRG_301:g.89801C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.1803C>T MANE Select ENSP00000261769.4:p.Phe601=
ENST00000261769.9:c.1803C>T ENSP00000261769.4:p.Phe601=
ENST00000422392.6:c.1620C>T ENSP00000414946.2:p.Phe540=
ENST00000562836.5:n.1874C>T
ENST00000566510.5:c.*469C>T ENSP00000458139.1:n.*469C>T
ENST00000566612.5:c.*43C>T ENSP00000454782.1:n.*43C>T
ENST00000611625.4:c.1866C>T ENSP00000481063.1:p.Phe622=
ENST00000612417.4:c.1803C>T ENSP00000478360.1:p.Phe601=
ENST00000621016.4:c.1803C>T ENSP00000480664.1:p.Phe601=
NM_004360.3:c.1803C>T , LRG_301t1:c.1803C>T NP_004351.1:p.Phe601=
XM_011523488.1:c.1068C>T XP_011521790.1:p.Phe356=
XM_011523489.1:c.1068C>T XP_011521791.1:p.Phe356=
NM_001317184.1:c.1620C>T NP_001304113.1:p.Phe540=
NM_001317185.1:c.255C>T NP_001304114.1:p.Phe85=
NM_001317186.1:c.-163C>T NP_001304115.1:n.-163C>T
NM_004360.4:c.1803C>T NP_004351.1:p.Phe601=
NM_004360.5:c.1803C>T MANE Select NP_004351.1:p.Phe601=
NM_001317184.2:c.1620C>T NP_001304113.1:p.Phe540=
NM_001317185.2:c.255C>T NP_001304114.1:p.Phe85=
NM_001317186.2:c.-163C>T NP_001304115.1:n.-163C>T