Canonical Allele Identifier: CA151518
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 127913
ClinVar RCV Id: RCV000115841 RCV000200980 RCV000123236 RCV000590637 RCV001705821 RCV003149805 RCV002505036 RCV003328170
dbSNP Id: rs370864592
ExAC: 16:68849506 C / T
gnomAD v2: 16-68849506-C-T
gnomAD v3: 16-68815603-C-T
gnomAD v4: 16-68815603-C-T
MyVariant Identifiers: chr16:g.68849506C>T (hg19) chr16:g.68815603C>T (hg38)
PubMed: PMID:9537325 PMID:9744472 PMID:24204729 PMID:26580448 PMID:27227907 PMID:27443514
ERepo: CA151518/MONDO:0007648/007 CA151518/MONDO:0100488/007
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68815603C>T , CM000678.2:g.68815603C>T GRCh38
NC_000016.9:g.68849506C>T , CM000678.1:g.68849506C>T GRCh37
NC_000016.8:g.67407007C>T NCBI36
NG_008021.1:g.83312C>T , LRG_301:g.83312C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.1409C>T MANE Select ENSP00000261769.4:p.Thr470Ile
ENST00000261769.9:c.1409C>T ENSP00000261769.4:p.Thr470Ile
ENST00000422392.6:c.1226C>T ENSP00000414946.2:p.Thr409Ile
ENST00000562836.5:n.1480C>T
ENST00000566510.5:c.*75C>T ENSP00000458139.1:n.*75C>T
ENST00000566612.5:c.1409C>T ENSP00000454782.1:p.Thr470Ile
ENST00000611625.4:c.1472C>T ENSP00000481063.1:p.Thr491Ile
ENST00000612417.4:c.1409C>T ENSP00000478360.1:p.Thr470Ile
ENST00000621016.4:c.1409C>T ENSP00000480664.1:p.Thr470Ile
NM_004360.3:c.1409C>T , LRG_301t1:c.1409C>T NP_004351.1:p.Thr470Ile
XM_011523488.1:c.674C>T XP_011521790.1:p.Thr225Ile
XM_011523489.1:c.674C>T XP_011521791.1:p.Thr225Ile
NM_001317184.1:c.1226C>T NP_001304113.1:p.Thr409Ile
NM_001317185.1:c.-140C>T NP_001304114.1:n.-140C>T
NM_001317186.1:c.-411C>T NP_001304115.1:n.-411C>T
NM_004360.4:c.1409C>T NP_004351.1:p.Thr470Ile
NM_004360.5:c.1409C>T MANE Select NP_004351.1:p.Thr470Ile
NM_001317184.2:c.1226C>T NP_001304113.1:p.Thr409Ile
NM_001317185.2:c.-140C>T NP_001304114.1:n.-140C>T
NM_001317186.2:c.-411C>T NP_001304115.1:n.-411C>T
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