Canonical Allele Identifier: CA396471256

Gene: CDH1

Linked Data

• ClinVar Variation Id: 1318691
• ClinVar RCV Id: RCV001768315 ; RCV002458599
• dbSNP Id: rs1596972818
• gnomAD v4: 16-68829768-C-T
• MyVariant Identifiers: chr16:g.68863671C>T (hg19) ; chr16:g.68829768C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68829768C>T , CM000678.2:g.68829768C>T	GRCh38
NC_000016.9:g.68863671C>T , CM000678.1:g.68863671C>T	GRCh37
NC_000016.8:g.67421172C>T	NCBI36
NG_008021.1:g.97477C>T , LRG_301:g.97477C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.2410C>T MANE Select	ENSP00000261769.4:p.Pro804Ser
ENST00000261769.9:c.2410C>T	ENSP00000261769.4:p.Pro804Ser
ENST00000422392.6:c.2227C>T	ENSP00000414946.2:p.Pro743Ser
ENST00000562118.1:n.628C>T
ENST00000562836.5:n.2481C>T
ENST00000566510.5:c.*1076C>T	ENSP00000458139.1:n.*1076C>T
ENST00000566612.5:c.*650C>T	ENSP00000454782.1:n.*650C>T
ENST00000611625.4:c.2473C>T	ENSP00000481063.1:p.Pro825Ser
ENST00000612417.4:c.1853+3214C>T	ENSP00000478360.1:n.1853+3214C>T
ENST00000621016.4:c.1866-4435C>T	ENSP00000480664.1:n.1866-4435C>T
NM_004360.3:c.2410C>T , LRG_301t1:c.2410C>T	NP_004351.1:p.Pro804Ser
XM_011523488.1:c.1675C>T	XP_011521790.1:p.Pro559Ser
XM_011523489.1:c.1675C>T	XP_011521791.1:p.Pro559Ser
NM_001317184.1:c.2227C>T	NP_001304113.1:p.Pro743Ser
NM_001317185.1:c.862C>T	NP_001304114.1:p.Pro288Ser
NM_001317186.1:c.445C>T	NP_001304115.1:p.Pro149Ser
NM_004360.4:c.2410C>T	NP_004351.1:p.Pro804Ser
NM_004360.5:c.2410C>T MANE Select	NP_004351.1:p.Pro804Ser
NM_001317184.2:c.2227C>T	NP_001304113.1:p.Pro743Ser
NM_001317185.2:c.862C>T	NP_001304114.1:p.Pro288Ser
NM_001317186.2:c.445C>T	NP_001304115.1:p.Pro149Ser