Canonical Allele Identifier: CA396465211
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 819743
ClinVar RCV Id: RCV001012563 RCV001219653
dbSNP Id: rs1596960520
MyVariant Identifiers: chr16:g.68853265A>G (hg19) chr16:g.68819362A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68819362A>G , CM000678.2:g.68819362A>G GRCh38
NC_000016.9:g.68853265A>G , CM000678.1:g.68853265A>G GRCh37
NC_000016.8:g.67410766A>G NCBI36
NG_008021.1:g.87071A>G , LRG_301:g.87071A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.1648A>G MANE Select ENSP00000261769.4:p.Arg550Gly
ENST00000261769.9:c.1648A>G ENSP00000261769.4:p.Arg550Gly
ENST00000422392.6:c.1465A>G ENSP00000414946.2:p.Arg489Gly
ENST00000562836.5:n.1719A>G
ENST00000566510.5:c.*314A>G ENSP00000458139.1:n.*314A>G
ENST00000566612.5:c.1566-2639A>G ENSP00000454782.1:n.1566-2639A>G
ENST00000611625.4:c.1711A>G ENSP00000481063.1:p.Arg571Gly
ENST00000612417.4:c.1648A>G ENSP00000478360.1:p.Arg550Gly
ENST00000621016.4:c.1648A>G ENSP00000480664.1:p.Arg550Gly
NM_004360.3:c.1648A>G , LRG_301t1:c.1648A>G NP_004351.1:p.Arg550Gly
XM_011523488.1:c.913A>G XP_011521790.1:p.Arg305Gly
XM_011523489.1:c.913A>G XP_011521791.1:p.Arg305Gly
NM_001317184.1:c.1465A>G NP_001304113.1:p.Arg489Gly
NM_001317185.1:c.100A>G NP_001304114.1:p.Arg34Gly
NM_001317186.1:c.-254-2639A>G NP_001304115.1:n.-254-2639A>G
NM_004360.4:c.1648A>G NP_004351.1:p.Arg550Gly
NM_004360.5:c.1648A>G MANE Select NP_004351.1:p.Arg550Gly
NM_001317184.2:c.1465A>G NP_001304113.1:p.Arg489Gly
NM_001317185.2:c.100A>G NP_001304114.1:p.Arg34Gly
NM_001317186.2:c.-254-2639A>G NP_001304115.1:n.-254-2639A>G
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