Canonical Allele Identifier: CA396472532
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 647512
ClinVar RCV Id: RCV000802032 RCV001015994
dbSNP Id: rs1596976571
gnomAD v4: 16-68833426-A-G
MyVariant Identifiers: chr16:g.68867329A>G (hg19) chr16:g.68833426A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68833426A>G , CM000678.2:g.68833426A>G GRCh38
NC_000016.9:g.68867329A>G , CM000678.1:g.68867329A>G GRCh37
NC_000016.8:g.67424830A>G NCBI36
NG_008021.1:g.101135A>G , LRG_301:g.101135A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2576A>G MANE Select ENSP00000261769.4:p.Tyr859Cys
ENST00000261769.9:c.2576A>G ENSP00000261769.4:p.Tyr859Cys
ENST00000422392.6:c.2393A>G ENSP00000414946.2:p.Tyr798Cys
ENST00000562118.1:n.794A>G
ENST00000562836.5:n.2647A>G
ENST00000566510.5:c.*1242A>G ENSP00000458139.1:n.*1242A>G
ENST00000566612.5:c.*816A>G ENSP00000454782.1:n.*816A>G
ENST00000611625.4:c.2639A>G ENSP00000481063.1:p.Tyr880Cys
ENST00000612417.4:c.1854-765A>G ENSP00000478360.1:n.1854-765A>G
ENST00000621016.4:c.1866-777A>G ENSP00000480664.1:n.1866-777A>G
NM_004360.3:c.2576A>G , LRG_301t1:c.2576A>G NP_004351.1:p.Tyr859Cys
XM_011523488.1:c.1841A>G XP_011521790.1:p.Tyr614Cys
XM_011523489.1:c.1841A>G XP_011521791.1:p.Tyr614Cys
NM_001317184.1:c.2393A>G NP_001304113.1:p.Tyr798Cys
NM_001317185.1:c.1028A>G NP_001304114.1:p.Tyr343Cys
NM_001317186.1:c.611A>G NP_001304115.1:p.Tyr204Cys
NM_004360.4:c.2576A>G NP_004351.1:p.Tyr859Cys
NM_004360.5:c.2576A>G MANE Select NP_004351.1:p.Tyr859Cys
NM_001317184.2:c.2393A>G NP_001304113.1:p.Tyr798Cys
NM_001317185.2:c.1028A>G NP_001304114.1:p.Tyr343Cys
NM_001317186.2:c.611A>G NP_001304115.1:p.Tyr204Cys
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