Canonical Allele Identifier: CA396467508

Gene: CDH1

Linked Data

• ClinVar Variation Id: 463735
• ClinVar RCV Id: RCV000536569 ; RCV001268570 ; RCV003328394
• dbSNP Id: rs971882211
• COSMIC: COSM256583
• MyVariant Identifiers: chr16:g.68857307G>T (hg19) ; chr16:g.68823404G>T (hg38)
• ERepo: CA396467508/MONDO:0007648/007 ; CA396467508/MONDO:0100488/007

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68823404G>T , CM000678.2:g.68823404G>T	GRCh38
NC_000016.9:g.68857307G>T , CM000678.1:g.68857307G>T	GRCh37
NC_000016.8:g.67414808G>T	NCBI36
NG_008021.1:g.91113G>T , LRG_301:g.91113G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.1942G>T MANE Select	ENSP00000261769.4:p.Glu648Ter
ENST00000261769.9:c.1942G>T	ENSP00000261769.4:p.Glu648Ter
ENST00000422392.6:c.1759G>T	ENSP00000414946.2:p.Glu587Ter
ENST00000562118.1:n.160G>T
ENST00000562836.5:n.2013G>T
ENST00000566510.5:c.*608G>T	ENSP00000458139.1:n.*608G>T
ENST00000566612.5:c.*182G>T	ENSP00000454782.1:n.*182G>T
ENST00000611625.4:c.2005G>T	ENSP00000481063.1:p.Glu669Ter
ENST00000612417.4:c.1830+1285G>T	ENSP00000478360.1:n.1830+1285G>T
ENST00000621016.4:c.1865+1250G>T	ENSP00000480664.1:n.1865+1250G>T
NM_004360.3:c.1942G>T , LRG_301t1:c.1942G>T	NP_004351.1:p.Glu648Ter
XM_011523488.1:c.1207G>T	XP_011521790.1:p.Glu403Ter
XM_011523489.1:c.1207G>T	XP_011521791.1:p.Glu403Ter
NM_001317184.1:c.1759G>T	NP_001304113.1:p.Glu587Ter
NM_001317185.1:c.394G>T	NP_001304114.1:p.Glu132Ter
NM_001317186.1:c.-24G>T	NP_001304115.1:n.-24G>T
NM_004360.4:c.1942G>T	NP_004351.1:p.Glu648Ter
NM_004360.5:c.1942G>T MANE Select	NP_004351.1:p.Glu648Ter
NM_001317184.2:c.1759G>T	NP_001304113.1:p.Glu587Ter
NM_001317185.2:c.394G>T	NP_001304114.1:p.Glu132Ter
NM_001317186.2:c.-24G>T	NP_001304115.1:n.-24G>T