Canonical Allele Identifier: CA396462949

Gene: CDH1

Linked Data

• ClinVar Variation Id: 819155
• ClinVar RCV Id: RCV001011454
• dbSNP Id: rs1597897944
• MyVariant Identifiers: chr16:g.68849511A>T (hg19) ; chr16:g.68815608A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68815608A>T , CM000678.2:g.68815608A>T	GRCh38
NC_000016.9:g.68849511A>T , CM000678.1:g.68849511A>T	GRCh37
NC_000016.8:g.67407012A>T	NCBI36
NG_008021.1:g.83317A>T , LRG_301:g.83317A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.1414A>T MANE Select	ENSP00000261769.4:p.Thr472Ser
ENST00000261769.9:c.1414A>T	ENSP00000261769.4:p.Thr472Ser
ENST00000422392.6:c.1231A>T	ENSP00000414946.2:p.Thr411Ser
ENST00000562836.5:n.1485A>T
ENST00000566510.5:c.*80A>T	ENSP00000458139.1:n.*80A>T
ENST00000566612.5:c.1414A>T	ENSP00000454782.1:p.Thr472Ser
ENST00000611625.4:c.1477A>T	ENSP00000481063.1:p.Thr493Ser
ENST00000612417.4:c.1414A>T	ENSP00000478360.1:p.Thr472Ser
ENST00000621016.4:c.1414A>T	ENSP00000480664.1:p.Thr472Ser
NM_004360.3:c.1414A>T , LRG_301t1:c.1414A>T	NP_004351.1:p.Thr472Ser
XM_011523488.1:c.679A>T	XP_011521790.1:p.Thr227Ser
XM_011523489.1:c.679A>T	XP_011521791.1:p.Thr227Ser
NM_001317184.1:c.1231A>T	NP_001304113.1:p.Thr411Ser
NM_001317185.1:c.-135A>T	NP_001304114.1:n.-135A>T
NM_001317186.1:c.-406A>T	NP_001304115.1:n.-406A>T
NM_004360.4:c.1414A>T	NP_004351.1:p.Thr472Ser
NM_004360.5:c.1414A>T MANE Select	NP_004351.1:p.Thr472Ser
NM_001317184.2:c.1231A>T	NP_001304113.1:p.Thr411Ser
NM_001317185.2:c.-135A>T	NP_001304114.1:n.-135A>T
NM_001317186.2:c.-406A>T	NP_001304115.1:n.-406A>T