Canonical Allele Identifier: CA396467817

Gene: CDH1

Linked Data

• ClinVar Variation Id: 2506351
• ClinVar RCV Id: RCV003234943
• MyVariant Identifiers: chr16:g.68857449G>T (hg19) ; chr16:g.68823546G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68823546G>T , CM000678.2:g.68823546G>T	GRCh38
NC_000016.9:g.68857449G>T , CM000678.1:g.68857449G>T	GRCh37
NC_000016.8:g.67414950G>T	NCBI36
NG_008021.1:g.91255G>T , LRG_301:g.91255G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.2084G>T MANE Select	ENSP00000261769.4:p.Cys695Phe
ENST00000261769.9:c.2084G>T	ENSP00000261769.4:p.Cys695Phe
ENST00000422392.6:c.1901G>T	ENSP00000414946.2:p.Cys634Phe
ENST00000562118.1:n.302G>T
ENST00000562836.5:n.2155G>T
ENST00000566510.5:c.*750G>T	ENSP00000458139.1:n.*750G>T
ENST00000566612.5:c.*324G>T	ENSP00000454782.1:n.*324G>T
ENST00000611625.4:c.2147G>T	ENSP00000481063.1:p.Cys716Phe
ENST00000612417.4:c.1830+1427G>T	ENSP00000478360.1:n.1830+1427G>T
ENST00000621016.4:c.1865+1392G>T	ENSP00000480664.1:n.1865+1392G>T
NM_004360.3:c.2084G>T , LRG_301t1:c.2084G>T	NP_004351.1:p.Cys695Phe
XM_011523488.1:c.1349G>T	XP_011521790.1:p.Cys450Phe
XM_011523489.1:c.1349G>T	XP_011521791.1:p.Cys450Phe
NM_001317184.1:c.1901G>T	NP_001304113.1:p.Cys634Phe
NM_001317185.1:c.536G>T	NP_001304114.1:p.Cys179Phe
NM_001317186.1:c.119G>T	NP_001304115.1:p.Cys40Phe
NM_004360.4:c.2084G>T	NP_004351.1:p.Cys695Phe
NM_004360.5:c.2084G>T MANE Select	NP_004351.1:p.Cys695Phe
NM_001317184.2:c.1901G>T	NP_001304113.1:p.Cys634Phe
NM_001317185.2:c.536G>T	NP_001304114.1:p.Cys179Phe
NM_001317186.2:c.119G>T	NP_001304115.1:p.Cys40Phe