Canonical Allele Identifier: CA396458449

Gene: CDH1

Linked Data

• ClinVar Variation Id: 1476584
• ClinVar RCV Id: RCV001978018
• dbSNP Id: rs2152131027
• MyVariant Identifiers: chr16:g.68844128G>A (hg19) ; chr16:g.68810225G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68810225G>A , CM000678.2:g.68810225G>A	GRCh38
NC_000016.9:g.68844128G>A , CM000678.1:g.68844128G>A	GRCh37
NC_000016.8:g.67401629G>A	NCBI36
NG_008021.1:g.77934G>A , LRG_301:g.77934G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.716G>A MANE Select	ENSP00000261769.4:p.Gly239Glu
ENST00000261769.9:c.716G>A	ENSP00000261769.4:p.Gly239Glu
ENST00000422392.6:c.716G>A	ENSP00000414946.2:p.Gly239Glu
ENST00000561751.1:c.454+1377G>A
ENST00000562836.5:n.787G>A
ENST00000566510.5:c.560G>A	ENSP00000458139.1:p.Gly187Glu
ENST00000566612.5:c.716G>A	ENSP00000454782.1:p.Gly239Glu
ENST00000611625.4:c.716G>A	ENSP00000481063.1:p.Gly239Glu
ENST00000612417.4:c.716G>A	ENSP00000478360.1:p.Gly239Glu
ENST00000621016.4:c.716G>A	ENSP00000480664.1:p.Gly239Glu
NM_004360.3:c.716G>A , LRG_301t1:c.716G>A	NP_004351.1:p.Gly239Glu
XM_011523488.1:c.-20G>A	XP_011521790.1:n.-20G>A
XM_011523489.1:c.-20G>A	XP_011521791.1:n.-20G>A
NM_001317184.1:c.716G>A	NP_001304113.1:p.Gly239Glu
NM_001317185.1:c.-900G>A	NP_001304114.1:n.-900G>A
NM_001317186.1:c.-1104G>A	NP_001304115.1:n.-1104G>A
NM_004360.4:c.716G>A	NP_004351.1:p.Gly239Glu
NM_004360.5:c.716G>A MANE Select	NP_004351.1:p.Gly239Glu
NM_001317184.2:c.716G>A	NP_001304113.1:p.Gly239Glu
NM_001317185.2:c.-900G>A	NP_001304114.1:n.-900G>A
NM_001317186.2:c.-1104G>A	NP_001304115.1:n.-1104G>A