Canonical Allele Identifier: CA496153959

Gene: CDH1

Linked Data

• ClinVar Variation Id: 1111301
• ClinVar RCV Id: RCV001437847
• dbSNP Id: rs2152134824
• gnomAD v4: 16-68815592-C-T
• MyVariant Identifiers: chr16:g.68849495C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68815592C>T , CM000678.2:g.68815592C>T	GRCh38
NC_000016.9:g.68849495C>T , CM000678.1:g.68849495C>T	GRCh37
NC_000016.8:g.67406996C>T	NCBI36
NG_008021.1:g.83301C>T , LRG_301:g.83301C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.1398C>T MANE Select	ENSP00000261769.4:p.Leu466=
ENST00000261769.9:c.1398C>T	ENSP00000261769.4:p.Leu466=
ENST00000422392.6:c.1215C>T	ENSP00000414946.2:p.Leu405=
ENST00000562836.5:n.1469C>T
ENST00000566510.5:c.*64C>T	ENSP00000458139.1:n.*64C>T
ENST00000566612.5:c.1398C>T	ENSP00000454782.1:p.Leu466=
ENST00000611625.4:c.1461C>T	ENSP00000481063.1:p.Leu487=
ENST00000612417.4:c.1398C>T	ENSP00000478360.1:p.Leu466=
ENST00000621016.4:c.1398C>T	ENSP00000480664.1:p.Leu466=
NM_004360.3:c.1398C>T , LRG_301t1:c.1398C>T	NP_004351.1:p.Leu466=
XM_011523488.1:c.663C>T	XP_011521790.1:p.Leu221=
XM_011523489.1:c.663C>T	XP_011521791.1:p.Leu221=
NM_001317184.1:c.1215C>T	NP_001304113.1:p.Leu405=
NM_001317185.1:c.-151C>T	NP_001304114.1:n.-151C>T
NM_001317186.1:c.-422C>T	NP_001304115.1:n.-422C>T
NM_004360.4:c.1398C>T	NP_004351.1:p.Leu466=
NM_004360.5:c.1398C>T MANE Select	NP_004351.1:p.Leu466=
NM_001317184.2:c.1215C>T	NP_001304113.1:p.Leu405=
NM_001317185.2:c.-151C>T	NP_001304114.1:n.-151C>T
NM_001317186.2:c.-422C>T	NP_001304115.1:n.-422C>T