Canonical Allele Identifier: CA16607060

Gene: CDH1

Linked Data

• ClinVar Variation Id: 390600
• ClinVar RCV Id: RCV000421296
• dbSNP Id: rs1057523832
• MyVariant Identifiers: chr16:g.68849498C>A (hg19) ; chr16:g.68815595C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68815595C>A , CM000678.2:g.68815595C>A	GRCh38
NC_000016.9:g.68849498C>A , CM000678.1:g.68849498C>A	GRCh37
NC_000016.8:g.67406999C>A	NCBI36
NG_008021.1:g.83304C>A , LRG_301:g.83304C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.1401C>A MANE Select	ENSP00000261769.4:p.Thr467=
ENST00000261769.9:c.1401C>A	ENSP00000261769.4:p.Thr467=
ENST00000422392.6:c.1218C>A	ENSP00000414946.2:p.Thr406=
ENST00000562836.5:n.1472C>A
ENST00000566510.5:c.*67C>A	ENSP00000458139.1:n.*67C>A
ENST00000566612.5:c.1401C>A	ENSP00000454782.1:p.Thr467=
ENST00000611625.4:c.1464C>A	ENSP00000481063.1:p.Thr488=
ENST00000612417.4:c.1401C>A	ENSP00000478360.1:p.Thr467=
ENST00000621016.4:c.1401C>A	ENSP00000480664.1:p.Thr467=
NM_004360.3:c.1401C>A , LRG_301t1:c.1401C>A	NP_004351.1:p.Thr467=
XM_011523488.1:c.666C>A	XP_011521790.1:p.Thr222=
XM_011523489.1:c.666C>A	XP_011521791.1:p.Thr222=
NM_001317184.1:c.1218C>A	NP_001304113.1:p.Thr406=
NM_001317185.1:c.-148C>A	NP_001304114.1:n.-148C>A
NM_001317186.1:c.-419C>A	NP_001304115.1:n.-419C>A
NM_004360.4:c.1401C>A	NP_004351.1:p.Thr467=
NM_004360.5:c.1401C>A MANE Select	NP_004351.1:p.Thr467=
NM_001317184.2:c.1218C>A	NP_001304113.1:p.Thr406=
NM_001317185.2:c.-148C>A	NP_001304114.1:n.-148C>A
NM_001317186.2:c.-419C>A	NP_001304115.1:n.-419C>A