Canonical Allele Identifier: CA192317

Gene: CDH1

Linked Data

• ClinVar Variation Id: 185577
• ClinVar RCV Id: RCV000165020 ; RCV000608093 ; RCV000548980 ; RCV003328254
• dbSNP Id: rs780375749
• ExAC: 16:68835569 G / A
• gnomAD v2: 16-68835569-G-A
• gnomAD v4: 16-68801666-G-A
• MyVariant Identifiers: chr16:g.68835569G>A (hg19) ; chr16:g.68801666G>A (hg38)
• ERepo: CA192317/MONDO:0100488/007

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68801666G>A , CM000678.2:g.68801666G>A	GRCh38
NC_000016.9:g.68835569G>A , CM000678.1:g.68835569G>A	GRCh37
NC_000016.8:g.67393070G>A	NCBI36
NG_008021.1:g.69375G>A , LRG_301:g.69375G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.164-4G>A MANE Select	ENSP00000261769.4:n.164-4G>A
ENST00000261769.9:c.164-4G>A	ENSP00000261769.4:n.164-4G>A
ENST00000422392.6:c.164-4G>A	ENSP00000414946.2:n.164-4G>A
ENST00000562836.5:n.235-4G>A
ENST00000564676.5:n.446-4G>A
ENST00000564745.1:n.159-4G>A
ENST00000566510.5:c.164-4G>A	ENSP00000458139.1:n.164-4G>A
ENST00000566612.5:c.164-4G>A	ENSP00000454782.1:n.164-4G>A
ENST00000611625.4:c.164-4G>A	ENSP00000481063.1:n.164-4G>A
ENST00000612417.4:c.164-4G>A	ENSP00000478360.1:n.164-4G>A
ENST00000621016.4:c.164-4G>A	ENSP00000480664.1:n.164-4G>A
NM_004360.3:c.164-4G>A , LRG_301t1:c.164-4G>A	NP_004351.1:n.164-4G>A
XM_011523488.1:c.-572-4G>A	XP_011521790.1:n.-572-4G>A
XM_011523489.1:c.-572-4G>A	XP_011521791.1:n.-572-4G>A
NM_001317184.1:c.164-4G>A	NP_001304113.1:n.164-4G>A
NM_001317185.1:c.-1452-4G>A	NP_001304114.1:n.-1452-4G>A
NM_001317186.1:c.-1656-4G>A	NP_001304115.1:n.-1656-4G>A
NM_004360.4:c.164-4G>A	NP_004351.1:n.164-4G>A
NM_004360.5:c.164-4G>A MANE Select	NP_004351.1:n.164-4G>A
NM_001317184.2:c.164-4G>A	NP_001304113.1:n.164-4G>A
NM_001317185.2:c.-1452-4G>A	NP_001304114.1:n.-1452-4G>A
NM_001317186.2:c.-1656-4G>A	NP_001304115.1:n.-1656-4G>A