Canonical Allele Identifier: CA396472114

Gene: CDH1

Linked Data

• ClinVar Variation Id: 1442898
• ClinVar RCV Id: RCV001953218
• dbSNP Id: rs864622310
• MyVariant Identifiers: chr16:g.68867239C>T (hg19) ; chr16:g.68833336C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68833336C>T , CM000678.2:g.68833336C>T	GRCh38
NC_000016.9:g.68867239C>T , CM000678.1:g.68867239C>T	GRCh37
NC_000016.8:g.67424740C>T	NCBI36
NG_008021.1:g.101045C>T , LRG_301:g.101045C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.2486C>T MANE Select	ENSP00000261769.4:p.Ser829Phe
ENST00000261769.9:c.2486C>T	ENSP00000261769.4:p.Ser829Phe
ENST00000422392.6:c.2303C>T	ENSP00000414946.2:p.Ser768Phe
ENST00000562118.1:n.704C>T
ENST00000562836.5:n.2557C>T
ENST00000566510.5:c.*1152C>T	ENSP00000458139.1:n.*1152C>T
ENST00000566612.5:c.*726C>T	ENSP00000454782.1:n.*726C>T
ENST00000611625.4:c.2549C>T	ENSP00000481063.1:p.Ser850Phe
ENST00000612417.4:c.1854-855C>T	ENSP00000478360.1:n.1854-855C>T
ENST00000621016.4:c.1866-867C>T	ENSP00000480664.1:n.1866-867C>T
NM_004360.3:c.2486C>T , LRG_301t1:c.2486C>T	NP_004351.1:p.Ser829Phe
XM_011523488.1:c.1751C>T	XP_011521790.1:p.Ser584Phe
XM_011523489.1:c.1751C>T	XP_011521791.1:p.Ser584Phe
NM_001317184.1:c.2303C>T	NP_001304113.1:p.Ser768Phe
NM_001317185.1:c.938C>T	NP_001304114.1:p.Ser313Phe
NM_001317186.1:c.521C>T	NP_001304115.1:p.Ser174Phe
NM_004360.4:c.2486C>T	NP_004351.1:p.Ser829Phe
NM_004360.5:c.2486C>T MANE Select	NP_004351.1:p.Ser829Phe
NM_001317184.2:c.2303C>T	NP_001304113.1:p.Ser768Phe
NM_001317185.2:c.938C>T	NP_001304114.1:p.Ser313Phe
NM_001317186.2:c.521C>T	NP_001304115.1:p.Ser174Phe