Canonical Allele Identifier: CA396457509

Gene: CDH1

Linked Data

• ClinVar Variation Id: 957154
• ClinVar RCV Id: RCV001230084
• dbSNP Id: rs903144020
• gnomAD v4: 16-68801895-T-C
• MyVariant Identifiers: chr16:g.68835798T>C (hg19) ; chr16:g.68801895T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68801895T>C , CM000678.2:g.68801895T>C	GRCh38
NC_000016.9:g.68835798T>C , CM000678.1:g.68835798T>C	GRCh37
NC_000016.8:g.67393299T>C	NCBI36
NG_008021.1:g.69604T>C , LRG_301:g.69604T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.387+2T>C MANE Select	ENSP00000261769.4:n.387+2T>C
ENST00000261769.9:c.387+2T>C	ENSP00000261769.4:n.387+2T>C
ENST00000422392.6:c.387+2T>C	ENSP00000414946.2:n.387+2T>C
ENST00000561751.1:c.154+2T>C
ENST00000562836.5:n.458+2T>C
ENST00000564676.5:n.669+2T>C
ENST00000564745.1:n.382+2T>C
ENST00000566510.5:c.387+2T>C	ENSP00000458139.1:n.387+2T>C
ENST00000566612.5:c.387+2T>C	ENSP00000454782.1:n.387+2T>C
ENST00000611625.4:c.387+2T>C	ENSP00000481063.1:n.387+2T>C
ENST00000612417.4:c.387+2T>C	ENSP00000478360.1:n.387+2T>C
ENST00000621016.4:c.387+2T>C	ENSP00000480664.1:n.387+2T>C
NM_004360.3:c.387+2T>C , LRG_301t1:c.387+2T>C	NP_004351.1:n.387+2T>C
XM_011523488.1:c.-349+2T>C	XP_011521790.1:n.-349+2T>C
XM_011523489.1:c.-349+2T>C	XP_011521791.1:n.-349+2T>C
NM_001317184.1:c.387+2T>C	NP_001304113.1:n.387+2T>C
NM_001317185.1:c.-1229+2T>C	NP_001304114.1:n.-1229+2T>C
NM_001317186.1:c.-1433+2T>C	NP_001304115.1:n.-1433+2T>C
NM_004360.4:c.387+2T>C	NP_004351.1:n.387+2T>C
NM_004360.5:c.387+2T>C MANE Select	NP_004351.1:n.387+2T>C
NM_001317184.2:c.387+2T>C	NP_001304113.1:n.387+2T>C
NM_001317185.2:c.-1229+2T>C	NP_001304114.1:n.-1229+2T>C
NM_001317186.2:c.-1433+2T>C	NP_001304115.1:n.-1433+2T>C