Canonical Allele Identifier: CA396472779

Gene: CDH1

Linked Data

• ClinVar Variation Id: 1692797
• ClinVar RCV Id: RCV002258639
• dbSNP Id: rs1457628508
• MyVariant Identifiers: chr16:g.68867371C>G (hg19) ; chr16:g.68833468C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68833468C>G , CM000678.2:g.68833468C>G	GRCh38
NC_000016.9:g.68867371C>G , CM000678.1:g.68867371C>G	GRCh37
NC_000016.8:g.67424872C>G	NCBI36
NG_008021.1:g.101177C>G , LRG_301:g.101177C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.2618C>G MANE Select	ENSP00000261769.4:p.Ala873Gly
ENST00000261769.9:c.2618C>G	ENSP00000261769.4:p.Ala873Gly
ENST00000422392.6:c.2435C>G	ENSP00000414946.2:p.Ala812Gly
ENST00000562118.1:n.836C>G
ENST00000562836.5:n.2689C>G
ENST00000566510.5:c.*1284C>G	ENSP00000458139.1:n.*1284C>G
ENST00000566612.5:c.*858C>G	ENSP00000454782.1:n.*858C>G
ENST00000611625.4:c.2681C>G	ENSP00000481063.1:p.Ala894Gly
ENST00000612417.4:c.1854-723C>G	ENSP00000478360.1:n.1854-723C>G
ENST00000621016.4:c.1866-735C>G	ENSP00000480664.1:n.1866-735C>G
NM_004360.3:c.2618C>G , LRG_301t1:c.2618C>G	NP_004351.1:p.Ala873Gly
XM_011523488.1:c.1883C>G	XP_011521790.1:p.Ala628Gly
XM_011523489.1:c.1883C>G	XP_011521791.1:p.Ala628Gly
NM_001317184.1:c.2435C>G	NP_001304113.1:p.Ala812Gly
NM_001317185.1:c.1070C>G	NP_001304114.1:p.Ala357Gly
NM_001317186.1:c.653C>G	NP_001304115.1:p.Ala218Gly
NM_004360.4:c.2618C>G	NP_004351.1:p.Ala873Gly
NM_004360.5:c.2618C>G MANE Select	NP_004351.1:p.Ala873Gly
NM_001317184.2:c.2435C>G	NP_001304113.1:p.Ala812Gly
NM_001317185.2:c.1070C>G	NP_001304114.1:p.Ala357Gly
NM_001317186.2:c.653C>G	NP_001304115.1:p.Ala218Gly