Canonical Allele Identifier: CA16614981

Gene: CDH1

Linked Data

• ClinVar Variation Id: 414058
• ClinVar RCV Id: RCV001500493
• dbSNP Id: rs876659970
• MyVariant Identifiers: chr16:g.68856064T>A (hg19) ; chr16:g.68822161T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68822161T>A , CM000678.2:g.68822161T>A	GRCh38
NC_000016.9:g.68856064T>A , CM000678.1:g.68856064T>A	GRCh37
NC_000016.8:g.67413565T>A	NCBI36
NG_008021.1:g.89870T>A , LRG_301:g.89870T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.1872T>A MANE Select	ENSP00000261769.4:p.Ser624=
ENST00000261769.9:c.1872T>A	ENSP00000261769.4:p.Ser624=
ENST00000422392.6:c.1689T>A	ENSP00000414946.2:p.Ser563=
ENST00000562836.5:n.1943T>A
ENST00000566510.5:c.*538T>A	ENSP00000458139.1:n.*538T>A
ENST00000566612.5:c.*112T>A	ENSP00000454782.1:n.*112T>A
ENST00000611625.4:c.1935T>A	ENSP00000481063.1:p.Ser645=
ENST00000612417.4:c.1830+42T>A	ENSP00000478360.1:n.1830+42T>A
ENST00000621016.4:c.1865+7T>A	ENSP00000480664.1:n.1865+7T>A
NM_004360.3:c.1872T>A , LRG_301t1:c.1872T>A	NP_004351.1:p.Ser624=
XM_011523488.1:c.1137T>A	XP_011521790.1:p.Ser379=
XM_011523489.1:c.1137T>A	XP_011521791.1:p.Ser379=
NM_001317184.1:c.1689T>A	NP_001304113.1:p.Ser563=
NM_001317185.1:c.324T>A	NP_001304114.1:p.Ser108=
NM_001317186.1:c.-94T>A	NP_001304115.1:n.-94T>A
NM_004360.4:c.1872T>A	NP_004351.1:p.Ser624=
NM_004360.5:c.1872T>A MANE Select	NP_004351.1:p.Ser624=
NM_001317184.2:c.1689T>A	NP_001304113.1:p.Ser563=
NM_001317185.2:c.324T>A	NP_001304114.1:p.Ser108=
NM_001317186.2:c.-94T>A	NP_001304115.1:n.-94T>A