Canonical Allele Identifier: CA496157473
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1790518
ClinVar RCV Id: RCV002459534 RCV003512183
dbSNP Id: rs1287819180
gnomAD v2: 16-68863649-G-A
gnomAD v4: 16-68829746-G-A
MyVariant Identifiers: chr16:g.68863649G>A (hg19) chr16:g.68829746G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68829746G>A , CM000678.2:g.68829746G>A GRCh38
NC_000016.9:g.68863649G>A , CM000678.1:g.68863649G>A GRCh37
NC_000016.8:g.67421150G>A NCBI36
NG_008021.1:g.97455G>A , LRG_301:g.97455G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2388G>A MANE Select ENSP00000261769.4:p.Arg796=
ENST00000261769.9:c.2388G>A ENSP00000261769.4:p.Arg796=
ENST00000422392.6:c.2205G>A ENSP00000414946.2:p.Arg735=
ENST00000562118.1:n.606G>A
ENST00000562836.5:n.2459G>A
ENST00000566510.5:c.*1054G>A ENSP00000458139.1:n.*1054G>A
ENST00000566612.5:c.*628G>A ENSP00000454782.1:n.*628G>A
ENST00000611625.4:c.2451G>A ENSP00000481063.1:p.Arg817=
ENST00000612417.4:c.1853+3192G>A ENSP00000478360.1:n.1853+3192G>A
ENST00000621016.4:c.1866-4457G>A ENSP00000480664.1:n.1866-4457G>A
NM_004360.3:c.2388G>A , LRG_301t1:c.2388G>A NP_004351.1:p.Arg796=
XM_011523488.1:c.1653G>A XP_011521790.1:p.Arg551=
XM_011523489.1:c.1653G>A XP_011521791.1:p.Arg551=
NM_001317184.1:c.2205G>A NP_001304113.1:p.Arg735=
NM_001317185.1:c.840G>A NP_001304114.1:p.Arg280=
NM_001317186.1:c.423G>A NP_001304115.1:p.Arg141=
NM_004360.4:c.2388G>A NP_004351.1:p.Arg796=
NM_004360.5:c.2388G>A MANE Select NP_004351.1:p.Arg796=
NM_001317184.2:c.2205G>A NP_001304113.1:p.Arg735=
NM_001317185.2:c.840G>A NP_001304114.1:p.Arg280=
NM_001317186.2:c.423G>A NP_001304115.1:p.Arg141=
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Search 100 bp 3'