Canonical Allele Identifier: CA396465167
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 819656
ClinVar RCV Id: RCV001012396
dbSNP Id: rs1596960481
MyVariant Identifiers: chr16:g.68853254C>T (hg19) chr16:g.68819351C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68819351C>T , CM000678.2:g.68819351C>T GRCh38
NC_000016.9:g.68853254C>T , CM000678.1:g.68853254C>T GRCh37
NC_000016.8:g.67410755C>T NCBI36
NG_008021.1:g.87060C>T , LRG_301:g.87060C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.1637C>T MANE Select ENSP00000261769.4:p.Ala546Val
ENST00000261769.9:c.1637C>T ENSP00000261769.4:p.Ala546Val
ENST00000422392.6:c.1454C>T ENSP00000414946.2:p.Ala485Val
ENST00000562836.5:n.1708C>T
ENST00000566510.5:c.*303C>T ENSP00000458139.1:n.*303C>T
ENST00000566612.5:c.1566-2650C>T ENSP00000454782.1:n.1566-2650C>T
ENST00000611625.4:c.1700C>T ENSP00000481063.1:p.Ala567Val
ENST00000612417.4:c.1637C>T ENSP00000478360.1:p.Ala546Val
ENST00000621016.4:c.1637C>T ENSP00000480664.1:p.Ala546Val
NM_004360.3:c.1637C>T , LRG_301t1:c.1637C>T NP_004351.1:p.Ala546Val
XM_011523488.1:c.902C>T XP_011521790.1:p.Ala301Val
XM_011523489.1:c.902C>T XP_011521791.1:p.Ala301Val
NM_001317184.1:c.1454C>T NP_001304113.1:p.Ala485Val
NM_001317185.1:c.89C>T NP_001304114.1:p.Ala30Val
NM_001317186.1:c.-254-2650C>T NP_001304115.1:n.-254-2650C>T
NM_004360.4:c.1637C>T NP_004351.1:p.Ala546Val
NM_004360.5:c.1637C>T MANE Select NP_004351.1:p.Ala546Val
NM_001317184.2:c.1454C>T NP_001304113.1:p.Ala485Val
NM_001317185.2:c.89C>T NP_001304114.1:p.Ala30Val
NM_001317186.2:c.-254-2650C>T NP_001304115.1:n.-254-2650C>T
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