Canonical Allele Identifier: CA396457638

Gene: CDH1

Linked Data

• ClinVar Variation Id: 824945
• ClinVar RCV Id: RCV001022584
• dbSNP Id: rs1597890578
• MyVariant Identifiers: chr16:g.68842388G>T (hg19) ; chr16:g.68808485G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68808485G>T , CM000678.2:g.68808485G>T	GRCh38
NC_000016.9:g.68842388G>T , CM000678.1:g.68842388G>T	GRCh37
NC_000016.8:g.67399889G>T	NCBI36
NG_008021.1:g.76194G>T , LRG_301:g.76194G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.449G>T MANE Select	ENSP00000261769.4:p.Arg150Ile
ENST00000261769.9:c.449G>T	ENSP00000261769.4:p.Arg150Ile
ENST00000422392.6:c.449G>T	ENSP00000414946.2:p.Arg150Ile
ENST00000561751.1:c.216G>T
ENST00000562836.5:n.520G>T
ENST00000564676.5:n.731G>T
ENST00000564745.1:n.444G>T
ENST00000566510.5:c.449G>T	ENSP00000458139.1:p.Arg150Ile
ENST00000566612.5:c.449G>T	ENSP00000454782.1:p.Arg150Ile
ENST00000611625.4:c.449G>T	ENSP00000481063.1:p.Arg150Ile
ENST00000612417.4:c.449G>T	ENSP00000478360.1:p.Arg150Ile
ENST00000621016.4:c.449G>T	ENSP00000480664.1:p.Arg150Ile
NM_004360.3:c.449G>T , LRG_301t1:c.449G>T	NP_004351.1:p.Arg150Ile
XM_011523488.1:c.-287G>T	XP_011521790.1:n.-287G>T
XM_011523489.1:c.-287G>T	XP_011521791.1:n.-287G>T
NM_001317184.1:c.449G>T	NP_001304113.1:p.Arg150Ile
NM_001317185.1:c.-1167G>T	NP_001304114.1:n.-1167G>T
NM_001317186.1:c.-1371G>T	NP_001304115.1:n.-1371G>T
NM_004360.4:c.449G>T	NP_004351.1:p.Arg150Ile
NM_004360.5:c.449G>T MANE Select	NP_004351.1:p.Arg150Ile
NM_001317184.2:c.449G>T	NP_001304113.1:p.Arg150Ile
NM_001317185.2:c.-1167G>T	NP_001304114.1:n.-1167G>T
NM_001317186.2:c.-1371G>T	NP_001304115.1:n.-1371G>T