Canonical Allele Identifier: CA8130187

Gene: CDH1

Linked Data

• ClinVar Variation Id: 820541
• ClinVar RCV Id: RCV001014107 ; RCV001315583
• dbSNP Id: rs115408226
• ExAC: 16:68857391 G / T
• gnomAD v2: 16-68857391-G-T
• gnomAD v4: 16-68823488-G-T
• MyVariant Identifiers: chr16:g.68857391G>T (hg19) ; chr16:g.68823488G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68823488G>T , CM000678.2:g.68823488G>T	GRCh38
NC_000016.9:g.68857391G>T , CM000678.1:g.68857391G>T	GRCh37
NC_000016.8:g.67414892G>T	NCBI36
NG_008021.1:g.91197G>T , LRG_301:g.91197G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.2026G>T MANE Select	ENSP00000261769.4:p.Asp676Tyr
ENST00000261769.9:c.2026G>T	ENSP00000261769.4:p.Asp676Tyr
ENST00000422392.6:c.1843G>T	ENSP00000414946.2:p.Asp615Tyr
ENST00000562118.1:n.244G>T
ENST00000562836.5:n.2097G>T
ENST00000566510.5:c.*692G>T	ENSP00000458139.1:n.*692G>T
ENST00000566612.5:c.*266G>T	ENSP00000454782.1:n.*266G>T
ENST00000611625.4:c.2089G>T	ENSP00000481063.1:p.Asp697Tyr
ENST00000612417.4:c.1830+1369G>T	ENSP00000478360.1:n.1830+1369G>T
ENST00000621016.4:c.1865+1334G>T	ENSP00000480664.1:n.1865+1334G>T
NM_004360.3:c.2026G>T , LRG_301t1:c.2026G>T	NP_004351.1:p.Asp676Tyr
XM_011523488.1:c.1291G>T	XP_011521790.1:p.Asp431Tyr
XM_011523489.1:c.1291G>T	XP_011521791.1:p.Asp431Tyr
NM_001317184.1:c.1843G>T	NP_001304113.1:p.Asp615Tyr
NM_001317185.1:c.478G>T	NP_001304114.1:p.Asp160Tyr
NM_001317186.1:c.61G>T	NP_001304115.1:p.Asp21Tyr
NM_004360.4:c.2026G>T	NP_004351.1:p.Asp676Tyr
NM_004360.5:c.2026G>T MANE Select	NP_004351.1:p.Asp676Tyr
NM_001317184.2:c.1843G>T	NP_001304113.1:p.Asp615Tyr
NM_001317185.2:c.478G>T	NP_001304114.1:p.Asp160Tyr
NM_001317186.2:c.61G>T	NP_001304115.1:p.Asp21Tyr