Canonical Allele Identifier: CA283291569
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1619134
ClinVar RCV Id: RCV002082259 RCV002454497
dbSNP Id: rs140123339
gnomAD v4: 16-68801872-C-T
MyVariant Identifiers: chr16:g.68835775C>T (hg19) chr16:g.68801872C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68801872C>T , CM000678.2:g.68801872C>T GRCh38
NC_000016.9:g.68835775C>T , CM000678.1:g.68835775C>T GRCh37
NC_000016.8:g.67393276C>T NCBI36
NG_008021.1:g.69581C>T , LRG_301:g.69581C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.366C>T MANE Select ENSP00000261769.4:p.His122=
ENST00000261769.9:c.366C>T ENSP00000261769.4:p.His122=
ENST00000422392.6:c.366C>T ENSP00000414946.2:p.His122=
ENST00000561751.1:c.133C>T
ENST00000562836.5:n.437C>T
ENST00000564676.5:n.648C>T
ENST00000564745.1:n.361C>T
ENST00000566510.5:c.366C>T ENSP00000458139.1:p.His122=
ENST00000566612.5:c.366C>T ENSP00000454782.1:p.His122=
ENST00000611625.4:c.366C>T ENSP00000481063.1:p.His122=
ENST00000612417.4:c.366C>T ENSP00000478360.1:p.His122=
ENST00000621016.4:c.366C>T ENSP00000480664.1:p.His122=
NM_004360.3:c.366C>T , LRG_301t1:c.366C>T NP_004351.1:p.His122=
XM_011523488.1:c.-370C>T XP_011521790.1:n.-370C>T
XM_011523489.1:c.-370C>T XP_011521791.1:n.-370C>T
NM_001317184.1:c.366C>T NP_001304113.1:p.His122=
NM_001317185.1:c.-1250C>T NP_001304114.1:n.-1250C>T
NM_001317186.1:c.-1454C>T NP_001304115.1:n.-1454C>T
NM_004360.4:c.366C>T NP_004351.1:p.His122=
NM_004360.5:c.366C>T MANE Select NP_004351.1:p.His122=
NM_001317184.2:c.366C>T NP_001304113.1:p.His122=
NM_001317185.2:c.-1250C>T NP_001304114.1:n.-1250C>T
NM_001317186.2:c.-1454C>T NP_001304115.1:n.-1454C>T
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