Canonical Allele Identifier: CA396457326

Gene: CDH1

Linked Data

• ClinVar Variation Id: 964177
• ClinVar RCV Id: RCV001238353 ; RCV002436938
• dbSNP Id: rs1177900932
• gnomAD v3: 16-68801800-C-A
• gnomAD v4: 16-68801800-C-A
• COSMIC: COSM972776
• MyVariant Identifiers: chr16:g.68835703C>A (hg19) ; chr16:g.68801800C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68801800C>A , CM000678.2:g.68801800C>A	GRCh38
NC_000016.9:g.68835703C>A , CM000678.1:g.68835703C>A	GRCh37
NC_000016.8:g.67393204C>A	NCBI36
NG_008021.1:g.69509C>A , LRG_301:g.69509C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.294C>A MANE Select	ENSP00000261769.4:p.Phe98Leu
ENST00000261769.9:c.294C>A	ENSP00000261769.4:p.Phe98Leu
ENST00000422392.6:c.294C>A	ENSP00000414946.2:p.Phe98Leu
ENST00000561751.1:c.61C>A
ENST00000562836.5:n.365C>A
ENST00000564676.5:n.576C>A
ENST00000564745.1:n.289C>A
ENST00000566510.5:c.294C>A	ENSP00000458139.1:p.Phe98Leu
ENST00000566612.5:c.294C>A	ENSP00000454782.1:p.Phe98Leu
ENST00000611625.4:c.294C>A	ENSP00000481063.1:p.Phe98Leu
ENST00000612417.4:c.294C>A	ENSP00000478360.1:p.Phe98Leu
ENST00000621016.4:c.294C>A	ENSP00000480664.1:p.Phe98Leu
NM_004360.3:c.294C>A , LRG_301t1:c.294C>A	NP_004351.1:p.Phe98Leu
XM_011523488.1:c.-442C>A	XP_011521790.1:n.-442C>A
XM_011523489.1:c.-442C>A	XP_011521791.1:n.-442C>A
NM_001317184.1:c.294C>A	NP_001304113.1:p.Phe98Leu
NM_001317185.1:c.-1322C>A	NP_001304114.1:n.-1322C>A
NM_001317186.1:c.-1526C>A	NP_001304115.1:n.-1526C>A
NM_004360.4:c.294C>A	NP_004351.1:p.Phe98Leu
NM_004360.5:c.294C>A MANE Select	NP_004351.1:p.Phe98Leu
NM_001317184.2:c.294C>A	NP_001304113.1:p.Phe98Leu
NM_001317185.2:c.-1322C>A	NP_001304114.1:n.-1322C>A
NM_001317186.2:c.-1526C>A	NP_001304115.1:n.-1526C>A