Canonical Allele Identifier: CA396457229

Gene: CDH1

Linked Data

• ClinVar Variation Id: 630434
• ClinVar RCV Id: RCV000775708 ; RCV001245903
• dbSNP Id: rs1064793867
• MyVariant Identifiers: chr16:g.68835653G>T (hg19) ; chr16:g.68801750G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68801750G>T , CM000678.2:g.68801750G>T	GRCh38
NC_000016.9:g.68835653G>T , CM000678.1:g.68835653G>T	GRCh37
NC_000016.8:g.67393154G>T	NCBI36
NG_008021.1:g.69459G>T , LRG_301:g.69459G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.244G>T MANE Select	ENSP00000261769.4:p.Val82Leu
ENST00000261769.9:c.244G>T	ENSP00000261769.4:p.Val82Leu
ENST00000422392.6:c.244G>T	ENSP00000414946.2:p.Val82Leu
ENST00000561751.1:c.11G>T
ENST00000562836.5:n.315G>T
ENST00000564676.5:n.526G>T
ENST00000564745.1:n.239G>T
ENST00000566510.5:c.244G>T	ENSP00000458139.1:p.Val82Leu
ENST00000566612.5:c.244G>T	ENSP00000454782.1:p.Val82Leu
ENST00000611625.4:c.244G>T	ENSP00000481063.1:p.Val82Leu
ENST00000612417.4:c.244G>T	ENSP00000478360.1:p.Val82Leu
ENST00000621016.4:c.244G>T	ENSP00000480664.1:p.Val82Leu
NM_004360.3:c.244G>T , LRG_301t1:c.244G>T	NP_004351.1:p.Val82Leu
XM_011523488.1:c.-492G>T	XP_011521790.1:n.-492G>T
XM_011523489.1:c.-492G>T	XP_011521791.1:n.-492G>T
NM_001317184.1:c.244G>T	NP_001304113.1:p.Val82Leu
NM_001317185.1:c.-1372G>T	NP_001304114.1:n.-1372G>T
NM_001317186.1:c.-1576G>T	NP_001304115.1:n.-1576G>T
NM_004360.4:c.244G>T	NP_004351.1:p.Val82Leu
NM_004360.5:c.244G>T MANE Select	NP_004351.1:p.Val82Leu
NM_001317184.2:c.244G>T	NP_001304113.1:p.Val82Leu
NM_001317185.2:c.-1372G>T	NP_001304114.1:n.-1372G>T
NM_001317186.2:c.-1576G>T	NP_001304115.1:n.-1576G>T