Canonical Allele Identifier: CA168715
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 142565
ClinVar RCV Id: RCV000131762 RCV000228473 RCV000587217 RCV002271418
dbSNP Id: rs587782549
ExAC: 16:68863648 G / A
gnomAD v2: 16-68863648-G-A
gnomAD v3: 16-68829745-G-A
gnomAD v4: 16-68829745-G-A
MyVariant Identifiers: chr16:g.68863648G>A (hg19) chr16:g.68829745G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68829745G>A , CM000678.2:g.68829745G>A GRCh38
NC_000016.9:g.68863648G>A , CM000678.1:g.68863648G>A GRCh37
NC_000016.8:g.67421149G>A NCBI36
NG_008021.1:g.97454G>A , LRG_301:g.97454G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2387G>A MANE Select ENSP00000261769.4:p.Arg796Gln
ENST00000261769.9:c.2387G>A ENSP00000261769.4:p.Arg796Gln
ENST00000422392.6:c.2204G>A ENSP00000414946.2:p.Arg735Gln
ENST00000562118.1:n.605G>A
ENST00000562836.5:n.2458G>A
ENST00000566510.5:c.*1053G>A ENSP00000458139.1:n.*1053G>A
ENST00000566612.5:c.*627G>A ENSP00000454782.1:n.*627G>A
ENST00000611625.4:c.2450G>A ENSP00000481063.1:p.Arg817Gln
ENST00000612417.4:c.1853+3191G>A ENSP00000478360.1:n.1853+3191G>A
ENST00000621016.4:c.1866-4458G>A ENSP00000480664.1:n.1866-4458G>A
NM_004360.3:c.2387G>A , LRG_301t1:c.2387G>A NP_004351.1:p.Arg796Gln
XM_011523488.1:c.1652G>A XP_011521790.1:p.Arg551Gln
XM_011523489.1:c.1652G>A XP_011521791.1:p.Arg551Gln
NM_001317184.1:c.2204G>A NP_001304113.1:p.Arg735Gln
NM_001317185.1:c.839G>A NP_001304114.1:p.Arg280Gln
NM_001317186.1:c.422G>A NP_001304115.1:p.Arg141Gln
NM_004360.4:c.2387G>A NP_004351.1:p.Arg796Gln
NM_004360.5:c.2387G>A MANE Select NP_004351.1:p.Arg796Gln
NM_001317184.2:c.2204G>A NP_001304113.1:p.Arg735Gln
NM_001317185.2:c.839G>A NP_001304114.1:p.Arg280Gln
NM_001317186.2:c.422G>A NP_001304115.1:p.Arg141Gln
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