Canonical Allele Identifier: CA396465435
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 428619
ClinVar RCV Id: RCV000492379 RCV001326496 RCV003328369
dbSNP Id: rs786202712
MyVariant Identifiers: chr16:g.68853320C>G (hg19) chr16:g.68819417C>G (hg38)
ERepo: CA396465435/MONDO:0100488/007
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68819417C>G , CM000678.2:g.68819417C>G GRCh38
NC_000016.9:g.68853320C>G , CM000678.1:g.68853320C>G GRCh37
NC_000016.8:g.67410821C>G NCBI36
NG_008021.1:g.87126C>G , LRG_301:g.87126C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.1703C>G MANE Select ENSP00000261769.4:p.Thr568Arg
ENST00000261769.9:c.1703C>G ENSP00000261769.4:p.Thr568Arg
ENST00000422392.6:c.1520C>G ENSP00000414946.2:p.Thr507Arg
ENST00000562836.5:n.1774C>G
ENST00000566510.5:c.*369C>G ENSP00000458139.1:n.*369C>G
ENST00000566612.5:c.1566-2584C>G ENSP00000454782.1:n.1566-2584C>G
ENST00000611625.4:c.1766C>G ENSP00000481063.1:p.Thr589Arg
ENST00000612417.4:c.1703C>G ENSP00000478360.1:p.Thr568Arg
ENST00000621016.4:c.1703C>G ENSP00000480664.1:p.Thr568Arg
NM_004360.3:c.1703C>G , LRG_301t1:c.1703C>G NP_004351.1:p.Thr568Arg
XM_011523488.1:c.968C>G XP_011521790.1:p.Thr323Arg
XM_011523489.1:c.968C>G XP_011521791.1:p.Thr323Arg
NM_001317184.1:c.1520C>G NP_001304113.1:p.Thr507Arg
NM_001317185.1:c.155C>G NP_001304114.1:p.Thr52Arg
NM_001317186.1:c.-254-2584C>G NP_001304115.1:n.-254-2584C>G
NM_004360.4:c.1703C>G NP_004351.1:p.Thr568Arg
NM_004360.5:c.1703C>G MANE Select NP_004351.1:p.Thr568Arg
NM_001317184.2:c.1520C>G NP_001304113.1:p.Thr507Arg
NM_001317185.2:c.155C>G NP_001304114.1:p.Thr52Arg
NM_001317186.2:c.-254-2584C>G NP_001304115.1:n.-254-2584C>G
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