Canonical Allele Identifier: CA396467078

Gene: CDH1

Linked Data

• ClinVar Variation Id: 928253
• ClinVar RCV Id: RCV001192027 ; RCV001245497
• dbSNP Id: rs1961165592
• gnomAD v4: 16-68822157-C-T
• MyVariant Identifiers: chr16:g.68856060C>T (hg19) ; chr16:g.68822157C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68822157C>T , CM000678.2:g.68822157C>T	GRCh38
NC_000016.9:g.68856060C>T , CM000678.1:g.68856060C>T	GRCh37
NC_000016.8:g.67413561C>T	NCBI36
NG_008021.1:g.89866C>T , LRG_301:g.89866C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.1868C>T MANE Select	ENSP00000261769.4:p.Thr623Ile
ENST00000261769.9:c.1868C>T	ENSP00000261769.4:p.Thr623Ile
ENST00000422392.6:c.1685C>T	ENSP00000414946.2:p.Thr562Ile
ENST00000562836.5:n.1939C>T
ENST00000566510.5:c.*534C>T	ENSP00000458139.1:n.*534C>T
ENST00000566612.5:c.*108C>T	ENSP00000454782.1:n.*108C>T
ENST00000611625.4:c.1931C>T	ENSP00000481063.1:p.Thr644Ile
ENST00000612417.4:c.1830+38C>T	ENSP00000478360.1:n.1830+38C>T
ENST00000621016.4:c.1865+3C>T	ENSP00000480664.1:n.1865+3C>T
NM_004360.3:c.1868C>T , LRG_301t1:c.1868C>T	NP_004351.1:p.Thr623Ile
XM_011523488.1:c.1133C>T	XP_011521790.1:p.Thr378Ile
XM_011523489.1:c.1133C>T	XP_011521791.1:p.Thr378Ile
NM_001317184.1:c.1685C>T	NP_001304113.1:p.Thr562Ile
NM_001317185.1:c.320C>T	NP_001304114.1:p.Thr107Ile
NM_001317186.1:c.-98C>T	NP_001304115.1:n.-98C>T
NM_004360.4:c.1868C>T	NP_004351.1:p.Thr623Ile
NM_004360.5:c.1868C>T MANE Select	NP_004351.1:p.Thr623Ile
NM_001317184.2:c.1685C>T	NP_001304113.1:p.Thr562Ile
NM_001317185.2:c.320C>T	NP_001304114.1:p.Thr107Ile
NM_001317186.2:c.-98C>T	NP_001304115.1:n.-98C>T