Canonical Allele Identifier: CA396457244

Gene: CDH1

Linked Data

• ClinVar Variation Id: 479529
• ClinVar RCV Id: RCV000565577 ; RCV003624416
• dbSNP Id: rs1555514427
• MyVariant Identifiers: chr16:g.68835662G>A (hg19) ; chr16:g.68801759G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68801759G>A , CM000678.2:g.68801759G>A	GRCh38
NC_000016.9:g.68835662G>A , CM000678.1:g.68835662G>A	GRCh37
NC_000016.8:g.67393163G>A	NCBI36
NG_008021.1:g.69468G>A , LRG_301:g.69468G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.253G>A MANE Select	ENSP00000261769.4:p.Val85Ile
ENST00000261769.9:c.253G>A	ENSP00000261769.4:p.Val85Ile
ENST00000422392.6:c.253G>A	ENSP00000414946.2:p.Val85Ile
ENST00000561751.1:c.20G>A
ENST00000562836.5:n.324G>A
ENST00000564676.5:n.535G>A
ENST00000564745.1:n.248G>A
ENST00000566510.5:c.253G>A	ENSP00000458139.1:p.Val85Ile
ENST00000566612.5:c.253G>A	ENSP00000454782.1:p.Val85Ile
ENST00000611625.4:c.253G>A	ENSP00000481063.1:p.Val85Ile
ENST00000612417.4:c.253G>A	ENSP00000478360.1:p.Val85Ile
ENST00000621016.4:c.253G>A	ENSP00000480664.1:p.Val85Ile
NM_004360.3:c.253G>A , LRG_301t1:c.253G>A	NP_004351.1:p.Val85Ile
XM_011523488.1:c.-483G>A	XP_011521790.1:n.-483G>A
XM_011523489.1:c.-483G>A	XP_011521791.1:n.-483G>A
NM_001317184.1:c.253G>A	NP_001304113.1:p.Val85Ile
NM_001317185.1:c.-1363G>A	NP_001304114.1:n.-1363G>A
NM_001317186.1:c.-1567G>A	NP_001304115.1:n.-1567G>A
NM_004360.4:c.253G>A	NP_004351.1:p.Val85Ile
NM_004360.5:c.253G>A MANE Select	NP_004351.1:p.Val85Ile
NM_001317184.2:c.253G>A	NP_001304113.1:p.Val85Ile
NM_001317185.2:c.-1363G>A	NP_001304114.1:n.-1363G>A
NM_001317186.2:c.-1567G>A	NP_001304115.1:n.-1567G>A