Canonical Allele Identifier: CA396458953
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 496236
ClinVar RCV Id: RCV000586470
dbSNP Id: rs1555515467
MyVariant Identifiers: chr16:g.68844230A>T (hg19) chr16:g.68810327A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68810327A>T , CM000678.2:g.68810327A>T GRCh38
NC_000016.9:g.68844230A>T , CM000678.1:g.68844230A>T GRCh37
NC_000016.8:g.67401731A>T NCBI36
NG_008021.1:g.78036A>T , LRG_301:g.78036A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.818A>T MANE Select ENSP00000261769.4:p.Glu273Val
ENST00000261769.9:c.818A>T ENSP00000261769.4:p.Glu273Val
ENST00000422392.6:c.818A>T ENSP00000414946.2:p.Glu273Val
ENST00000561751.1:c.455-1357A>T
ENST00000562836.5:n.889A>T
ENST00000566510.5:c.662A>T ENSP00000458139.1:p.Glu221Val
ENST00000566612.5:c.818A>T ENSP00000454782.1:p.Glu273Val
ENST00000611625.4:c.818A>T ENSP00000481063.1:p.Glu273Val
ENST00000612417.4:c.818A>T ENSP00000478360.1:p.Glu273Val
ENST00000621016.4:c.818A>T ENSP00000480664.1:p.Glu273Val
NM_004360.3:c.818A>T , LRG_301t1:c.818A>T NP_004351.1:p.Glu273Val
XM_011523488.1:c.83A>T XP_011521790.1:p.Glu28Val
XM_011523489.1:c.83A>T XP_011521791.1:p.Glu28Val
NM_001317184.1:c.818A>T NP_001304113.1:p.Glu273Val
NM_001317185.1:c.-798A>T NP_001304114.1:n.-798A>T
NM_001317186.1:c.-1002A>T NP_001304115.1:n.-1002A>T
NM_004360.4:c.818A>T NP_004351.1:p.Glu273Val
NM_004360.5:c.818A>T MANE Select NP_004351.1:p.Glu273Val
NM_001317184.2:c.818A>T NP_001304113.1:p.Glu273Val
NM_001317185.2:c.-798A>T NP_001304114.1:n.-798A>T
NM_001317186.2:c.-1002A>T NP_001304115.1:n.-1002A>T
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