Canonical Allele Identifier: CA396467157

Gene: CDH1

Linked Data

• ClinVar Variation Id: 1331991
• ClinVar RCV Id: RCV001804507
• dbSNP Id: rs2152138539
• gnomAD v4: 16-68822181-C-T
• MyVariant Identifiers: chr16:g.68856084C>T (hg19) ; chr16:g.68822181C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68822181C>T , CM000678.2:g.68822181C>T	GRCh38
NC_000016.9:g.68856084C>T , CM000678.1:g.68856084C>T	GRCh37
NC_000016.8:g.67413585C>T	NCBI36
NG_008021.1:g.89890C>T , LRG_301:g.89890C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.1892C>T MANE Select	ENSP00000261769.4:p.Thr631Ile
ENST00000261769.9:c.1892C>T	ENSP00000261769.4:p.Thr631Ile
ENST00000422392.6:c.1709C>T	ENSP00000414946.2:p.Thr570Ile
ENST00000562836.5:n.1963C>T
ENST00000566510.5:c.*558C>T	ENSP00000458139.1:n.*558C>T
ENST00000566612.5:c.*132C>T	ENSP00000454782.1:n.*132C>T
ENST00000611625.4:c.1955C>T	ENSP00000481063.1:p.Thr652Ile
ENST00000612417.4:c.1830+62C>T	ENSP00000478360.1:n.1830+62C>T
ENST00000621016.4:c.1865+27C>T	ENSP00000480664.1:n.1865+27C>T
NM_004360.3:c.1892C>T , LRG_301t1:c.1892C>T	NP_004351.1:p.Thr631Ile
XM_011523488.1:c.1157C>T	XP_011521790.1:p.Thr386Ile
XM_011523489.1:c.1157C>T	XP_011521791.1:p.Thr386Ile
NM_001317184.1:c.1709C>T	NP_001304113.1:p.Thr570Ile
NM_001317185.1:c.344C>T	NP_001304114.1:p.Thr115Ile
NM_001317186.1:c.-74C>T	NP_001304115.1:n.-74C>T
NM_004360.4:c.1892C>T	NP_004351.1:p.Thr631Ile
NM_004360.5:c.1892C>T MANE Select	NP_004351.1:p.Thr631Ile
NM_001317184.2:c.1709C>T	NP_001304113.1:p.Thr570Ile
NM_001317185.2:c.344C>T	NP_001304114.1:p.Thr115Ile
NM_001317186.2:c.-74C>T	NP_001304115.1:n.-74C>T