Canonical Allele Identifier: CA496154308

Gene: CDH1

Linked Data

• dbSNP Id: rs1381792953
• gnomAD v2: 16-68853201-C-T
• gnomAD v4: 16-68819298-C-T
• MyVariant Identifiers: chr16:g.68853201C>T (hg19) ; chr16:g.68819298C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68819298C>T , CM000678.2:g.68819298C>T	GRCh38
NC_000016.9:g.68853201C>T , CM000678.1:g.68853201C>T	GRCh37
NC_000016.8:g.67410702C>T	NCBI36
NG_008021.1:g.87007C>T , LRG_301:g.87007C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.1584C>T MANE Select	ENSP00000261769.4:p.Asp528=
ENST00000261769.9:c.1584C>T	ENSP00000261769.4:p.Asp528=
ENST00000422392.6:c.1401C>T	ENSP00000414946.2:p.Asp467=
ENST00000562836.5:n.1655C>T
ENST00000566510.5:c.*250C>T	ENSP00000458139.1:n.*250C>T
ENST00000566612.5:c.1566-2703C>T	ENSP00000454782.1:n.1566-2703C>T
ENST00000611625.4:c.1647C>T	ENSP00000481063.1:p.Asp549=
ENST00000612417.4:c.1584C>T	ENSP00000478360.1:p.Asp528=
ENST00000621016.4:c.1584C>T	ENSP00000480664.1:p.Asp528=
NM_004360.3:c.1584C>T , LRG_301t1:c.1584C>T	NP_004351.1:p.Asp528=
XM_011523488.1:c.849C>T	XP_011521790.1:p.Asp283=
XM_011523489.1:c.849C>T	XP_011521791.1:p.Asp283=
NM_001317184.1:c.1401C>T	NP_001304113.1:p.Asp467=
NM_001317185.1:c.36C>T	NP_001304114.1:p.Asp12=
NM_001317186.1:c.-254-2703C>T	NP_001304115.1:n.-254-2703C>T
NM_004360.4:c.1584C>T	NP_004351.1:p.Asp528=
NM_004360.5:c.1584C>T MANE Select	NP_004351.1:p.Asp528=
NM_001317184.2:c.1401C>T	NP_001304113.1:p.Asp467=
NM_001317185.2:c.36C>T	NP_001304114.1:p.Asp12=
NM_001317186.2:c.-254-2703C>T	NP_001304115.1:n.-254-2703C>T