Canonical Allele Identifier: CA281003

Gene: CDH1

Linked Data

• ClinVar Variation Id: 12244
• ClinVar RCV Id: RCV000013031 ; RCV001013619 ; RCV001778650 ; RCV001781253
• dbSNP Id: rs121964878
• gnomAD v4: 16-68822190-C-T
• COSMIC: COSM19822
• MyVariant Identifiers: chr16:g.68856093C>T (hg19) ; chr16:g.68822190C>T (hg38)
• PubMed: PMID:12588804

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68822190C>T , CM000678.2:g.68822190C>T	GRCh38
NC_000016.9:g.68856093C>T , CM000678.1:g.68856093C>T	GRCh37
NC_000016.8:g.67413594C>T	NCBI36
NG_008021.1:g.89899C>T , LRG_301:g.89899C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.1901C>T MANE Select	ENSP00000261769.4:p.Ala634Val
ENST00000261769.9:c.1901C>T	ENSP00000261769.4:p.Ala634Val
ENST00000422392.6:c.1718C>T	ENSP00000414946.2:p.Ala573Val
ENST00000562836.5:n.1972C>T
ENST00000566510.5:c.*567C>T	ENSP00000458139.1:n.*567C>T
ENST00000566612.5:c.*141C>T	ENSP00000454782.1:n.*141C>T
ENST00000611625.4:c.1964C>T	ENSP00000481063.1:p.Ala655Val
ENST00000612417.4:c.1830+71C>T	ENSP00000478360.1:n.1830+71C>T
ENST00000621016.4:c.1865+36C>T	ENSP00000480664.1:n.1865+36C>T
NM_004360.3:c.1901C>T , LRG_301t1:c.1901C>T	NP_004351.1:p.Ala634Val
XM_011523488.1:c.1166C>T	XP_011521790.1:p.Ala389Val
XM_011523489.1:c.1166C>T	XP_011521791.1:p.Ala389Val
NM_001317184.1:c.1718C>T	NP_001304113.1:p.Ala573Val
NM_001317185.1:c.353C>T	NP_001304114.1:p.Ala118Val
NM_001317186.1:c.-65C>T	NP_001304115.1:n.-65C>T
NM_004360.4:c.1901C>T	NP_004351.1:p.Ala634Val
NM_004360.5:c.1901C>T MANE Select	NP_004351.1:p.Ala634Val
NM_001317184.2:c.1718C>T	NP_001304113.1:p.Ala573Val
NM_001317185.2:c.353C>T	NP_001304114.1:p.Ala118Val
NM_001317186.2:c.-65C>T	NP_001304115.1:n.-65C>T