Canonical Allele Identifier: CA8130313

Gene: CDH1

Linked Data

• dbSNP Id: rs781274240
• ExAC: 16:68867362 A / G
• gnomAD v2: 16-68867362-A-G
• MyVariant Identifiers: chr16:g.68867362A>G (hg19) ; chr16:g.68833459A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68833459A>G , CM000678.2:g.68833459A>G	GRCh38
NC_000016.9:g.68867362A>G , CM000678.1:g.68867362A>G	GRCh37
NC_000016.8:g.67424863A>G	NCBI36
NG_008021.1:g.101168A>G , LRG_301:g.101168A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.2609A>G MANE Select	ENSP00000261769.4:p.Lys870Arg
ENST00000261769.9:c.2609A>G	ENSP00000261769.4:p.Lys870Arg
ENST00000422392.6:c.2426A>G	ENSP00000414946.2:p.Lys809Arg
ENST00000562118.1:n.827A>G
ENST00000562836.5:n.2680A>G
ENST00000566510.5:c.*1275A>G	ENSP00000458139.1:n.*1275A>G
ENST00000566612.5:c.*849A>G	ENSP00000454782.1:n.*849A>G
ENST00000611625.4:c.2672A>G	ENSP00000481063.1:p.Lys891Arg
ENST00000612417.4:c.1854-732A>G	ENSP00000478360.1:n.1854-732A>G
ENST00000621016.4:c.1866-744A>G	ENSP00000480664.1:n.1866-744A>G
NM_004360.3:c.2609A>G , LRG_301t1:c.2609A>G	NP_004351.1:p.Lys870Arg
XM_011523488.1:c.1874A>G	XP_011521790.1:p.Lys625Arg
XM_011523489.1:c.1874A>G	XP_011521791.1:p.Lys625Arg
NM_001317184.1:c.2426A>G	NP_001304113.1:p.Lys809Arg
NM_001317185.1:c.1061A>G	NP_001304114.1:p.Lys354Arg
NM_001317186.1:c.644A>G	NP_001304115.1:p.Lys215Arg
NM_004360.4:c.2609A>G	NP_004351.1:p.Lys870Arg
NM_004360.5:c.2609A>G MANE Select	NP_004351.1:p.Lys870Arg
NM_001317184.2:c.2426A>G	NP_001304113.1:p.Lys809Arg
NM_001317185.2:c.1061A>G	NP_001304114.1:p.Lys354Arg
NM_001317186.2:c.644A>G	NP_001304115.1:p.Lys215Arg