Canonical Allele Identifier: CA192748

Gene: CDH1

Linked Data

• ClinVar Variation Id: 185725
• ClinVar RCV Id: RCV000165202 ; RCV001209811 ; RCV001824654
• dbSNP Id: rs786202407
• gnomAD v2: 16-68849575-T-C
• gnomAD v4: 16-68815672-T-C
• MyVariant Identifiers: chr16:g.68849575T>C (hg19) ; chr16:g.68815672T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68815672T>C , CM000678.2:g.68815672T>C	GRCh38
NC_000016.9:g.68849575T>C , CM000678.1:g.68849575T>C	GRCh37
NC_000016.8:g.67407076T>C	NCBI36
NG_008021.1:g.83381T>C , LRG_301:g.83381T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.1478T>C MANE Select	ENSP00000261769.4:p.Val493Ala
ENST00000261769.9:c.1478T>C	ENSP00000261769.4:p.Val493Ala
ENST00000422392.6:c.1295T>C	ENSP00000414946.2:p.Val432Ala
ENST00000562836.5:n.1549T>C
ENST00000566510.5:c.*144T>C	ENSP00000458139.1:n.*144T>C
ENST00000566612.5:c.1478T>C	ENSP00000454782.1:p.Val493Ala
ENST00000611625.4:c.1541T>C	ENSP00000481063.1:p.Val514Ala
ENST00000612417.4:c.1478T>C	ENSP00000478360.1:p.Val493Ala
ENST00000621016.4:c.1478T>C	ENSP00000480664.1:p.Val493Ala
NM_004360.3:c.1478T>C , LRG_301t1:c.1478T>C	NP_004351.1:p.Val493Ala
XM_011523488.1:c.743T>C	XP_011521790.1:p.Val248Ala
XM_011523489.1:c.743T>C	XP_011521791.1:p.Val248Ala
NM_001317184.1:c.1295T>C	NP_001304113.1:p.Val432Ala
NM_001317185.1:c.-71T>C	NP_001304114.1:n.-71T>C
NM_001317186.1:c.-342T>C	NP_001304115.1:n.-342T>C
NM_004360.4:c.1478T>C	NP_004351.1:p.Val493Ala
NM_004360.5:c.1478T>C MANE Select	NP_004351.1:p.Val493Ala
NM_001317184.2:c.1295T>C	NP_001304113.1:p.Val432Ala
NM_001317185.2:c.-71T>C	NP_001304114.1:n.-71T>C
NM_001317186.2:c.-342T>C	NP_001304115.1:n.-342T>C