Canonical Allele Identifier: CA163646

Gene: CDH1

Linked Data

• ClinVar Variation Id: 140820
• ClinVar RCV Id: RCV000129009 ; RCV003460881
• dbSNP Id: rs587781300
• MyVariant Identifiers: chr16:g.68867272C>T (hg19) ; chr16:g.68833369C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68833369C>T , CM000678.2:g.68833369C>T	GRCh38
NC_000016.9:g.68867272C>T , CM000678.1:g.68867272C>T	GRCh37
NC_000016.8:g.67424773C>T	NCBI36
NG_008021.1:g.101078C>T , LRG_301:g.101078C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.2519C>T MANE Select	ENSP00000261769.4:p.Ser840Phe
ENST00000261769.9:c.2519C>T	ENSP00000261769.4:p.Ser840Phe
ENST00000422392.6:c.2336C>T	ENSP00000414946.2:p.Ser779Phe
ENST00000562118.1:n.737C>T
ENST00000562836.5:n.2590C>T
ENST00000566510.5:c.*1185C>T	ENSP00000458139.1:n.*1185C>T
ENST00000566612.5:c.*759C>T	ENSP00000454782.1:n.*759C>T
ENST00000611625.4:c.2582C>T	ENSP00000481063.1:p.Ser861Phe
ENST00000612417.4:c.1854-822C>T	ENSP00000478360.1:n.1854-822C>T
ENST00000621016.4:c.1866-834C>T	ENSP00000480664.1:n.1866-834C>T
NM_004360.3:c.2519C>T , LRG_301t1:c.2519C>T	NP_004351.1:p.Ser840Phe
XM_011523488.1:c.1784C>T	XP_011521790.1:p.Ser595Phe
XM_011523489.1:c.1784C>T	XP_011521791.1:p.Ser595Phe
NM_001317184.1:c.2336C>T	NP_001304113.1:p.Ser779Phe
NM_001317185.1:c.971C>T	NP_001304114.1:p.Ser324Phe
NM_001317186.1:c.554C>T	NP_001304115.1:p.Ser185Phe
NM_004360.4:c.2519C>T	NP_004351.1:p.Ser840Phe
NM_004360.5:c.2519C>T MANE Select	NP_004351.1:p.Ser840Phe
NM_001317184.2:c.2336C>T	NP_001304113.1:p.Ser779Phe
NM_001317185.2:c.971C>T	NP_001304114.1:p.Ser324Phe
NM_001317186.2:c.554C>T	NP_001304115.1:p.Ser185Phe