Canonical Allele Identifier: CA188783
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 184377
ClinVar RCV Id: RCV000163621 RCV000897125 RCV003328249 RCV000586696
dbSNP Id: rs786201115
gnomAD v4: 16-68738368-G-A
MyVariant Identifiers: chr16:g.68772271G>A (hg19) chr16:g.68738368G>A (hg38)
ERepo: CA188783/MONDO:0007648/007 CA188783/MONDO:0100488/007
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68738368G>A , CM000678.2:g.68738368G>A GRCh38
NC_000016.9:g.68772271G>A , CM000678.1:g.68772271G>A GRCh37
NC_000016.8:g.67329772G>A NCBI36
NG_008021.1:g.6077G>A , LRG_301:g.6077G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.120G>A MANE Select ENSP00000261769.4:p.Thr40=
ENST00000261769.9:c.120G>A ENSP00000261769.4:p.Thr40=
ENST00000422392.6:c.120G>A ENSP00000414946.2:p.Thr40=
ENST00000566510.5:c.120G>A ENSP00000458139.1:p.Thr40=
ENST00000566612.5:c.120G>A ENSP00000454782.1:p.Thr40=
ENST00000611625.4:c.120G>A ENSP00000481063.1:p.Thr40=
ENST00000612417.4:c.120G>A ENSP00000478360.1:p.Thr40=
ENST00000621016.4:c.120G>A ENSP00000480664.1:p.Thr40=
NM_004360.3:c.120G>A , LRG_301t1:c.120G>A NP_004351.1:p.Thr40=
NM_001317184.1:c.120G>A NP_001304113.1:p.Thr40=
NM_001317185.1:c.-1496G>A NP_001304114.1:n.-1496G>A
NM_001317186.1:c.-1700G>A NP_001304115.1:n.-1700G>A
NM_004360.4:c.120G>A NP_004351.1:p.Thr40=
NM_004360.5:c.120G>A MANE Select NP_004351.1:p.Thr40=
NM_001317184.2:c.120G>A NP_001304113.1:p.Thr40=
NM_001317185.2:c.-1496G>A NP_001304114.1:n.-1496G>A
NM_001317186.2:c.-1700G>A NP_001304115.1:n.-1700G>A
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