Canonical Allele Identifier: CA396471394

Gene: CDH1

Linked Data

• ClinVar Variation Id: 3224175
• ClinVar RCV Id: RCV004518901
• dbSNP Id: rs2152142483
• MyVariant Identifiers: chr16:g.68863698G>A (hg19) ; chr16:g.68829795G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68829795G>A , CM000678.2:g.68829795G>A	GRCh38
NC_000016.9:g.68863698G>A , CM000678.1:g.68863698G>A	GRCh37
NC_000016.8:g.67421199G>A	NCBI36
NG_008021.1:g.97504G>A , LRG_301:g.97504G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.2437G>A MANE Select	ENSP00000261769.4:p.Glu813Lys
ENST00000261769.9:c.2437G>A	ENSP00000261769.4:p.Glu813Lys
ENST00000422392.6:c.2254G>A	ENSP00000414946.2:p.Glu752Lys
ENST00000562118.1:n.655G>A
ENST00000562836.5:n.2508G>A
ENST00000566510.5:c.*1103G>A	ENSP00000458139.1:n.*1103G>A
ENST00000566612.5:c.*677G>A	ENSP00000454782.1:n.*677G>A
ENST00000611625.4:c.2500G>A	ENSP00000481063.1:p.Glu834Lys
ENST00000612417.4:c.1853+3241G>A	ENSP00000478360.1:n.1853+3241G>A
ENST00000621016.4:c.1866-4408G>A	ENSP00000480664.1:n.1866-4408G>A
NM_004360.3:c.2437G>A , LRG_301t1:c.2437G>A	NP_004351.1:p.Glu813Lys
XM_011523488.1:c.1702G>A	XP_011521790.1:p.Glu568Lys
XM_011523489.1:c.1702G>A	XP_011521791.1:p.Glu568Lys
NM_001317184.1:c.2254G>A	NP_001304113.1:p.Glu752Lys
NM_001317185.1:c.889G>A	NP_001304114.1:p.Glu297Lys
NM_001317186.1:c.472G>A	NP_001304115.1:p.Glu158Lys
NM_004360.4:c.2437G>A	NP_004351.1:p.Glu813Lys
NM_004360.5:c.2437G>A MANE Select	NP_004351.1:p.Glu813Lys
NM_001317184.2:c.2254G>A	NP_001304113.1:p.Glu752Lys
NM_001317185.2:c.889G>A	NP_001304114.1:p.Glu297Lys
NM_001317186.2:c.472G>A	NP_001304115.1:p.Glu158Lys