Canonical Allele Identifier: CA396472039

Gene: CDH1

Linked Data

• ClinVar Variation Id: 961611
• ClinVar RCV Id: RCV001235328 ; RCV003462798
• dbSNP Id: rs1961533891
• MyVariant Identifiers: chr16:g.68867221C>T (hg19) ; chr16:g.68833318C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68833318C>T , CM000678.2:g.68833318C>T	GRCh38
NC_000016.9:g.68867221C>T , CM000678.1:g.68867221C>T	GRCh37
NC_000016.8:g.67424722C>T	NCBI36
NG_008021.1:g.101027C>T , LRG_301:g.101027C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.2468C>T MANE Select	ENSP00000261769.4:p.Thr823Ile
ENST00000261769.9:c.2468C>T	ENSP00000261769.4:p.Thr823Ile
ENST00000422392.6:c.2285C>T	ENSP00000414946.2:p.Thr762Ile
ENST00000562118.1:n.686C>T
ENST00000562836.5:n.2539C>T
ENST00000566510.5:c.*1134C>T	ENSP00000458139.1:n.*1134C>T
ENST00000566612.5:c.*708C>T	ENSP00000454782.1:n.*708C>T
ENST00000611625.4:c.2531C>T	ENSP00000481063.1:p.Thr844Ile
ENST00000612417.4:c.1854-873C>T	ENSP00000478360.1:n.1854-873C>T
ENST00000621016.4:c.1866-885C>T	ENSP00000480664.1:n.1866-885C>T
NM_004360.3:c.2468C>T , LRG_301t1:c.2468C>T	NP_004351.1:p.Thr823Ile
XM_011523488.1:c.1733C>T	XP_011521790.1:p.Thr578Ile
XM_011523489.1:c.1733C>T	XP_011521791.1:p.Thr578Ile
NM_001317184.1:c.2285C>T	NP_001304113.1:p.Thr762Ile
NM_001317185.1:c.920C>T	NP_001304114.1:p.Thr307Ile
NM_001317186.1:c.503C>T	NP_001304115.1:p.Thr168Ile
NM_004360.4:c.2468C>T	NP_004351.1:p.Thr823Ile
NM_004360.5:c.2468C>T MANE Select	NP_004351.1:p.Thr823Ile
NM_001317184.2:c.2285C>T	NP_001304113.1:p.Thr762Ile
NM_001317185.2:c.920C>T	NP_001304114.1:p.Thr307Ile
NM_001317186.2:c.503C>T	NP_001304115.1:p.Thr168Ile