Canonical Allele Identifier: CA396467819

Gene: CDH1

Linked Data

• ClinVar Variation Id: 2772114
• ClinVar RCV Id: RCV003512778
• dbSNP Id: rs1596965954
• MyVariant Identifiers: chr16:g.68857450T>A (hg19) ; chr16:g.68823547T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68823547T>A , CM000678.2:g.68823547T>A	GRCh38
NC_000016.9:g.68857450T>A , CM000678.1:g.68857450T>A	GRCh37
NC_000016.8:g.67414951T>A	NCBI36
NG_008021.1:g.91256T>A , LRG_301:g.91256T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.2085T>A MANE Select	ENSP00000261769.4:p.Cys695Ter
ENST00000261769.9:c.2085T>A	ENSP00000261769.4:p.Cys695Ter
ENST00000422392.6:c.1902T>A	ENSP00000414946.2:p.Cys634Ter
ENST00000562118.1:n.303T>A
ENST00000562836.5:n.2156T>A
ENST00000566510.5:c.*751T>A	ENSP00000458139.1:n.*751T>A
ENST00000566612.5:c.*325T>A	ENSP00000454782.1:n.*325T>A
ENST00000611625.4:c.2148T>A	ENSP00000481063.1:p.Cys716Ter
ENST00000612417.4:c.1830+1428T>A	ENSP00000478360.1:n.1830+1428T>A
ENST00000621016.4:c.1865+1393T>A	ENSP00000480664.1:n.1865+1393T>A
NM_004360.3:c.2085T>A , LRG_301t1:c.2085T>A	NP_004351.1:p.Cys695Ter
XM_011523488.1:c.1350T>A	XP_011521790.1:p.Cys450Ter
XM_011523489.1:c.1350T>A	XP_011521791.1:p.Cys450Ter
NM_001317184.1:c.1902T>A	NP_001304113.1:p.Cys634Ter
NM_001317185.1:c.537T>A	NP_001304114.1:p.Cys179Ter
NM_001317186.1:c.120T>A	NP_001304115.1:p.Cys40Ter
NM_004360.4:c.2085T>A	NP_004351.1:p.Cys695Ter
NM_004360.5:c.2085T>A MANE Select	NP_004351.1:p.Cys695Ter
NM_001317184.2:c.1902T>A	NP_001304113.1:p.Cys634Ter
NM_001317185.2:c.537T>A	NP_001304114.1:p.Cys179Ter
NM_001317186.2:c.120T>A	NP_001304115.1:p.Cys40Ter