Canonical Allele Identifier: CA16607069

Gene: CDH1

Linked Data

• ClinVar Variation Id: 389557
• ClinVar RCV Id: RCV000434747 ; RCV000570067 ; RCV001446353
• dbSNP Id: rs1057523470
• MyVariant Identifiers: chr16:g.68863559C>T (hg19) ; chr16:g.68829656C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68829656C>T , CM000678.2:g.68829656C>T	GRCh38
NC_000016.9:g.68863559C>T , CM000678.1:g.68863559C>T	GRCh37
NC_000016.8:g.67421060C>T	NCBI36
NG_008021.1:g.97365C>T , LRG_301:g.97365C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.2298C>T MANE Select	ENSP00000261769.4:p.Asp766=
ENST00000261769.9:c.2298C>T	ENSP00000261769.4:p.Asp766=
ENST00000422392.6:c.2115C>T	ENSP00000414946.2:p.Asp705=
ENST00000562118.1:n.516C>T
ENST00000562836.5:n.2369C>T
ENST00000566510.5:c.*964C>T	ENSP00000458139.1:n.*964C>T
ENST00000566612.5:c.*538C>T	ENSP00000454782.1:n.*538C>T
ENST00000611625.4:c.2361C>T	ENSP00000481063.1:p.Asp787=
ENST00000612417.4:c.1853+3102C>T	ENSP00000478360.1:n.1853+3102C>T
ENST00000621016.4:c.1866-4547C>T	ENSP00000480664.1:n.1866-4547C>T
NM_004360.3:c.2298C>T , LRG_301t1:c.2298C>T	NP_004351.1:p.Asp766=
XM_011523488.1:c.1563C>T	XP_011521790.1:p.Asp521=
XM_011523489.1:c.1563C>T	XP_011521791.1:p.Asp521=
NM_001317184.1:c.2115C>T	NP_001304113.1:p.Asp705=
NM_001317185.1:c.750C>T	NP_001304114.1:p.Asp250=
NM_001317186.1:c.333C>T	NP_001304115.1:p.Asp111=
NM_004360.4:c.2298C>T	NP_004351.1:p.Asp766=
NM_004360.5:c.2298C>T MANE Select	NP_004351.1:p.Asp766=
NM_001317184.2:c.2115C>T	NP_001304113.1:p.Asp705=
NM_001317185.2:c.750C>T	NP_001304114.1:p.Asp250=
NM_001317186.2:c.333C>T	NP_001304115.1:p.Asp111=