Canonical Allele Identifier: CA288045

Gene: CDH1

Linked Data

• ClinVar Variation Id: 127918
• ClinVar RCV Id: RCV000115847 ; RCV000234870 ; RCV000411078 ; RCV003398712
• dbSNP Id: rs587780116
• ExAC: 16:68835586 T / G
• gnomAD v2: 16-68835586-T-G
• gnomAD v4: 16-68801683-T-G
• MyVariant Identifiers: chr16:g.68835586T>G (hg19) ; chr16:g.68801683T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68801683T>G , CM000678.2:g.68801683T>G	GRCh38
NC_000016.9:g.68835586T>G , CM000678.1:g.68835586T>G	GRCh37
NC_000016.8:g.67393087T>G	NCBI36
NG_008021.1:g.69392T>G , LRG_301:g.69392T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.177T>G MANE Select	ENSP00000261769.4:p.Asp59Glu
ENST00000261769.9:c.177T>G	ENSP00000261769.4:p.Asp59Glu
ENST00000422392.6:c.177T>G	ENSP00000414946.2:p.Asp59Glu
ENST00000562836.5:n.248T>G
ENST00000564676.5:n.459T>G
ENST00000564745.1:n.172T>G
ENST00000566510.5:c.177T>G	ENSP00000458139.1:p.Asp59Glu
ENST00000566612.5:c.177T>G	ENSP00000454782.1:p.Asp59Glu
ENST00000611625.4:c.177T>G	ENSP00000481063.1:p.Asp59Glu
ENST00000612417.4:c.177T>G	ENSP00000478360.1:p.Asp59Glu
ENST00000621016.4:c.177T>G	ENSP00000480664.1:p.Asp59Glu
NM_004360.3:c.177T>G , LRG_301t1:c.177T>G	NP_004351.1:p.Asp59Glu
XM_011523488.1:c.-559T>G	XP_011521790.1:n.-559T>G
XM_011523489.1:c.-559T>G	XP_011521791.1:n.-559T>G
NM_001317184.1:c.177T>G	NP_001304113.1:p.Asp59Glu
NM_001317185.1:c.-1439T>G	NP_001304114.1:n.-1439T>G
NM_001317186.1:c.-1643T>G	NP_001304115.1:n.-1643T>G
NM_004360.4:c.177T>G	NP_004351.1:p.Asp59Glu
NM_004360.5:c.177T>G MANE Select	NP_004351.1:p.Asp59Glu
NM_001317184.2:c.177T>G	NP_001304113.1:p.Asp59Glu
NM_001317185.2:c.-1439T>G	NP_001304114.1:n.-1439T>G
NM_001317186.2:c.-1643T>G	NP_001304115.1:n.-1643T>G