Canonical Allele Identifier: CA8129818

Gene: CDH1

Linked Data

• ClinVar Variation Id: 406642
• ClinVar RCV Id: RCV000463685 ; RCV001187078 ; RCV002269273
• dbSNP Id: rs779313390
• ExAC: 16:68835671 C / T
• gnomAD v2: 16-68835671-C-T
• gnomAD v4: 16-68801768-C-T
• MyVariant Identifiers: chr16:g.68835671C>T (hg19) ; chr16:g.68801768C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68801768C>T , CM000678.2:g.68801768C>T	GRCh38
NC_000016.9:g.68835671C>T , CM000678.1:g.68835671C>T	GRCh37
NC_000016.8:g.67393172C>T	NCBI36
NG_008021.1:g.69477C>T , LRG_301:g.69477C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.262C>T MANE Select	ENSP00000261769.4:p.Pro88Ser
ENST00000261769.9:c.262C>T	ENSP00000261769.4:p.Pro88Ser
ENST00000422392.6:c.262C>T	ENSP00000414946.2:p.Pro88Ser
ENST00000561751.1:c.29C>T
ENST00000562836.5:n.333C>T
ENST00000564676.5:n.544C>T
ENST00000564745.1:n.257C>T
ENST00000566510.5:c.262C>T	ENSP00000458139.1:p.Pro88Ser
ENST00000566612.5:c.262C>T	ENSP00000454782.1:p.Pro88Ser
ENST00000611625.4:c.262C>T	ENSP00000481063.1:p.Pro88Ser
ENST00000612417.4:c.262C>T	ENSP00000478360.1:p.Pro88Ser
ENST00000621016.4:c.262C>T	ENSP00000480664.1:p.Pro88Ser
NM_004360.3:c.262C>T , LRG_301t1:c.262C>T	NP_004351.1:p.Pro88Ser
XM_011523488.1:c.-474C>T	XP_011521790.1:n.-474C>T
XM_011523489.1:c.-474C>T	XP_011521791.1:n.-474C>T
NM_001317184.1:c.262C>T	NP_001304113.1:p.Pro88Ser
NM_001317185.1:c.-1354C>T	NP_001304114.1:n.-1354C>T
NM_001317186.1:c.-1558C>T	NP_001304115.1:n.-1558C>T
NM_004360.4:c.262C>T	NP_004351.1:p.Pro88Ser
NM_004360.5:c.262C>T MANE Select	NP_004351.1:p.Pro88Ser
NM_001317184.2:c.262C>T	NP_001304113.1:p.Pro88Ser
NM_001317185.2:c.-1354C>T	NP_001304114.1:n.-1354C>T
NM_001317186.2:c.-1558C>T	NP_001304115.1:n.-1558C>T