Canonical Allele Identifier: CA396462868

Gene: CDH1

Linked Data

• ClinVar Variation Id: 1329260
• ClinVar RCV Id: RCV001799303
• dbSNP Id: rs2152134806
• MyVariant Identifiers: chr16:g.68849485A>C (hg19) ; chr16:g.68815582A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68815582A>C , CM000678.2:g.68815582A>C	GRCh38
NC_000016.9:g.68849485A>C , CM000678.1:g.68849485A>C	GRCh37
NC_000016.8:g.67406986A>C	NCBI36
NG_008021.1:g.83291A>C , LRG_301:g.83291A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.1388A>C MANE Select	ENSP00000261769.4:p.Glu463Ala
ENST00000261769.9:c.1388A>C	ENSP00000261769.4:p.Glu463Ala
ENST00000422392.6:c.1205A>C	ENSP00000414946.2:p.Glu402Ala
ENST00000562836.5:n.1459A>C
ENST00000566510.5:c.*54A>C	ENSP00000458139.1:n.*54A>C
ENST00000566612.5:c.1388A>C	ENSP00000454782.1:p.Glu463Ala
ENST00000611625.4:c.1451A>C	ENSP00000481063.1:p.Glu484Ala
ENST00000612417.4:c.1388A>C	ENSP00000478360.1:p.Glu463Ala
ENST00000621016.4:c.1388A>C	ENSP00000480664.1:p.Glu463Ala
NM_004360.3:c.1388A>C , LRG_301t1:c.1388A>C	NP_004351.1:p.Glu463Ala
XM_011523488.1:c.653A>C	XP_011521790.1:p.Glu218Ala
XM_011523489.1:c.653A>C	XP_011521791.1:p.Glu218Ala
NM_001317184.1:c.1205A>C	NP_001304113.1:p.Glu402Ala
NM_001317185.1:c.-161A>C	NP_001304114.1:n.-161A>C
NM_001317186.1:c.-432A>C	NP_001304115.1:n.-432A>C
NM_004360.4:c.1388A>C	NP_004351.1:p.Glu463Ala
NM_004360.5:c.1388A>C MANE Select	NP_004351.1:p.Glu463Ala
NM_001317184.2:c.1205A>C	NP_001304113.1:p.Glu402Ala
NM_001317185.2:c.-161A>C	NP_001304114.1:n.-161A>C
NM_001317186.2:c.-432A>C	NP_001304115.1:n.-432A>C