Canonical Allele Identifier: CA396457454

Gene: CDH1

Linked Data

• ClinVar Variation Id: 660976
• ClinVar RCV Id: RCV000818290
• dbSNP Id: rs1597884955
• MyVariant Identifiers: chr16:g.68835765T>G (hg19) ; chr16:g.68801862T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68801862T>G , CM000678.2:g.68801862T>G	GRCh38
NC_000016.9:g.68835765T>G , CM000678.1:g.68835765T>G	GRCh37
NC_000016.8:g.67393266T>G	NCBI36
NG_008021.1:g.69571T>G , LRG_301:g.69571T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.356T>G MANE Select	ENSP00000261769.4:p.Val119Gly
ENST00000261769.9:c.356T>G	ENSP00000261769.4:p.Val119Gly
ENST00000422392.6:c.356T>G	ENSP00000414946.2:p.Val119Gly
ENST00000561751.1:c.123T>G
ENST00000562836.5:n.427T>G
ENST00000564676.5:n.638T>G
ENST00000564745.1:n.351T>G
ENST00000566510.5:c.356T>G	ENSP00000458139.1:p.Val119Gly
ENST00000566612.5:c.356T>G	ENSP00000454782.1:p.Val119Gly
ENST00000611625.4:c.356T>G	ENSP00000481063.1:p.Val119Gly
ENST00000612417.4:c.356T>G	ENSP00000478360.1:p.Val119Gly
ENST00000621016.4:c.356T>G	ENSP00000480664.1:p.Val119Gly
NM_004360.3:c.356T>G , LRG_301t1:c.356T>G	NP_004351.1:p.Val119Gly
XM_011523488.1:c.-380T>G	XP_011521790.1:n.-380T>G
XM_011523489.1:c.-380T>G	XP_011521791.1:n.-380T>G
NM_001317184.1:c.356T>G	NP_001304113.1:p.Val119Gly
NM_001317185.1:c.-1260T>G	NP_001304114.1:n.-1260T>G
NM_001317186.1:c.-1464T>G	NP_001304115.1:n.-1464T>G
NM_004360.4:c.356T>G	NP_004351.1:p.Val119Gly
NM_004360.5:c.356T>G MANE Select	NP_004351.1:p.Val119Gly
NM_001317184.2:c.356T>G	NP_001304113.1:p.Val119Gly
NM_001317185.2:c.-1260T>G	NP_001304114.1:n.-1260T>G
NM_001317186.2:c.-1464T>G	NP_001304115.1:n.-1464T>G