Canonical Allele Identifier: CA396471360
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 463760
ClinVar RCV Id: RCV000548706 RCV002448678
dbSNP Id: rs1555517917
gnomAD v4: 16-68829789-A-G
COSMIC: COSM5095517
MyVariant Identifiers: chr16:g.68863692A>G (hg19) chr16:g.68829789A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68829789A>G , CM000678.2:g.68829789A>G GRCh38
NC_000016.9:g.68863692A>G , CM000678.1:g.68863692A>G GRCh37
NC_000016.8:g.67421193A>G NCBI36
NG_008021.1:g.97498A>G , LRG_301:g.97498A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2431A>G MANE Select ENSP00000261769.4:p.Ile811Val
ENST00000261769.9:c.2431A>G ENSP00000261769.4:p.Ile811Val
ENST00000422392.6:c.2248A>G ENSP00000414946.2:p.Ile750Val
ENST00000562118.1:n.649A>G
ENST00000562836.5:n.2502A>G
ENST00000566510.5:c.*1097A>G ENSP00000458139.1:n.*1097A>G
ENST00000566612.5:c.*671A>G ENSP00000454782.1:n.*671A>G
ENST00000611625.4:c.2494A>G ENSP00000481063.1:p.Ile832Val
ENST00000612417.4:c.1853+3235A>G ENSP00000478360.1:n.1853+3235A>G
ENST00000621016.4:c.1866-4414A>G ENSP00000480664.1:n.1866-4414A>G
NM_004360.3:c.2431A>G , LRG_301t1:c.2431A>G NP_004351.1:p.Ile811Val
XM_011523488.1:c.1696A>G XP_011521790.1:p.Ile566Val
XM_011523489.1:c.1696A>G XP_011521791.1:p.Ile566Val
NM_001317184.1:c.2248A>G NP_001304113.1:p.Ile750Val
NM_001317185.1:c.883A>G NP_001304114.1:p.Ile295Val
NM_001317186.1:c.466A>G NP_001304115.1:p.Ile156Val
NM_004360.4:c.2431A>G NP_004351.1:p.Ile811Val
NM_004360.5:c.2431A>G MANE Select NP_004351.1:p.Ile811Val
NM_001317184.2:c.2248A>G NP_001304113.1:p.Ile750Val
NM_001317185.2:c.883A>G NP_001304114.1:p.Ile295Val
NM_001317186.2:c.466A>G NP_001304115.1:p.Ile156Val
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