Canonical Allele Identifier: CA338255
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 216589
ClinVar RCV Id: RCV000198874 RCV002399749 RCV003328264
dbSNP Id: rs863224726
MyVariant Identifiers: chr16:g.68853230A>T (hg19) chr16:g.68819327A>T (hg38)
ERepo: CA338255/MONDO:0007648/007 CA338255/MONDO:0100488/007
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68819327A>T , CM000678.2:g.68819327A>T GRCh38
NC_000016.9:g.68853230A>T , CM000678.1:g.68853230A>T GRCh37
NC_000016.8:g.67410731A>T NCBI36
NG_008021.1:g.87036A>T , LRG_301:g.87036A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.1613A>T MANE Select ENSP00000261769.4:p.Asp538Val
ENST00000261769.9:c.1613A>T ENSP00000261769.4:p.Asp538Val
ENST00000422392.6:c.1430A>T ENSP00000414946.2:p.Asp477Val
ENST00000562836.5:n.1684A>T
ENST00000566510.5:c.*279A>T ENSP00000458139.1:n.*279A>T
ENST00000566612.5:c.1566-2674A>T ENSP00000454782.1:n.1566-2674A>T
ENST00000611625.4:c.1676A>T ENSP00000481063.1:p.Asp559Val
ENST00000612417.4:c.1613A>T ENSP00000478360.1:p.Asp538Val
ENST00000621016.4:c.1613A>T ENSP00000480664.1:p.Asp538Val
NM_004360.3:c.1613A>T , LRG_301t1:c.1613A>T NP_004351.1:p.Asp538Val
XM_011523488.1:c.878A>T XP_011521790.1:p.Asp293Val
XM_011523489.1:c.878A>T XP_011521791.1:p.Asp293Val
NM_001317184.1:c.1430A>T NP_001304113.1:p.Asp477Val
NM_001317185.1:c.65A>T NP_001304114.1:p.Asp22Val
NM_001317186.1:c.-254-2674A>T NP_001304115.1:n.-254-2674A>T
NM_004360.4:c.1613A>T NP_004351.1:p.Asp538Val
NM_004360.5:c.1613A>T MANE Select NP_004351.1:p.Asp538Val
NM_001317184.2:c.1430A>T NP_001304113.1:p.Asp477Val
NM_001317185.2:c.65A>T NP_001304114.1:p.Asp22Val
NM_001317186.2:c.-254-2674A>T NP_001304115.1:n.-254-2674A>T
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