Canonical Allele Identifier: CA396471232

Gene: CDH1

Linked Data

• ClinVar Variation Id: 658830
• ClinVar RCV Id: RCV000815724
• dbSNP Id: rs1596972797
• MyVariant Identifiers: chr16:g.68863666C>G (hg19) ; chr16:g.68829763C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68829763C>G , CM000678.2:g.68829763C>G	GRCh38
NC_000016.9:g.68863666C>G , CM000678.1:g.68863666C>G	GRCh37
NC_000016.8:g.67421167C>G	NCBI36
NG_008021.1:g.97472C>G , LRG_301:g.97472C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.2405C>G MANE Select	ENSP00000261769.4:p.Ala802Gly
ENST00000261769.9:c.2405C>G	ENSP00000261769.4:p.Ala802Gly
ENST00000422392.6:c.2222C>G	ENSP00000414946.2:p.Ala741Gly
ENST00000562118.1:n.623C>G
ENST00000562836.5:n.2476C>G
ENST00000566510.5:c.*1071C>G	ENSP00000458139.1:n.*1071C>G
ENST00000566612.5:c.*645C>G	ENSP00000454782.1:n.*645C>G
ENST00000611625.4:c.2468C>G	ENSP00000481063.1:p.Ala823Gly
ENST00000612417.4:c.1853+3209C>G	ENSP00000478360.1:n.1853+3209C>G
ENST00000621016.4:c.1866-4440C>G	ENSP00000480664.1:n.1866-4440C>G
NM_004360.3:c.2405C>G , LRG_301t1:c.2405C>G	NP_004351.1:p.Ala802Gly
XM_011523488.1:c.1670C>G	XP_011521790.1:p.Ala557Gly
XM_011523489.1:c.1670C>G	XP_011521791.1:p.Ala557Gly
NM_001317184.1:c.2222C>G	NP_001304113.1:p.Ala741Gly
NM_001317185.1:c.857C>G	NP_001304114.1:p.Ala286Gly
NM_001317186.1:c.440C>G	NP_001304115.1:p.Ala147Gly
NM_004360.4:c.2405C>G	NP_004351.1:p.Ala802Gly
NM_004360.5:c.2405C>G MANE Select	NP_004351.1:p.Ala802Gly
NM_001317184.2:c.2222C>G	NP_001304113.1:p.Ala741Gly
NM_001317185.2:c.857C>G	NP_001304114.1:p.Ala286Gly
NM_001317186.2:c.440C>G	NP_001304115.1:p.Ala147Gly