Canonical Allele Identifier: CA496153955

Gene: CDH1

Linked Data

• ClinVar Variation Id: 479532
• ClinVar RCV Id: RCV000562119 ; RCV001393343
• dbSNP Id: rs373811706
• gnomAD v4: 16-68815586-C-G
• MyVariant Identifiers: chr16:g.68849489C>G (hg19) ; chr16:g.68815586C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68815586C>G , CM000678.2:g.68815586C>G	GRCh38
NC_000016.9:g.68849489C>G , CM000678.1:g.68849489C>G	GRCh37
NC_000016.8:g.67406990C>G	NCBI36
NG_008021.1:g.83295C>G , LRG_301:g.83295C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.1392C>G MANE Select	ENSP00000261769.4:p.Val464=
ENST00000261769.9:c.1392C>G	ENSP00000261769.4:p.Val464=
ENST00000422392.6:c.1209C>G	ENSP00000414946.2:p.Val403=
ENST00000562836.5:n.1463C>G
ENST00000566510.5:c.*58C>G	ENSP00000458139.1:n.*58C>G
ENST00000566612.5:c.1392C>G	ENSP00000454782.1:p.Val464=
ENST00000611625.4:c.1455C>G	ENSP00000481063.1:p.Val485=
ENST00000612417.4:c.1392C>G	ENSP00000478360.1:p.Val464=
ENST00000621016.4:c.1392C>G	ENSP00000480664.1:p.Val464=
NM_004360.3:c.1392C>G , LRG_301t1:c.1392C>G	NP_004351.1:p.Val464=
XM_011523488.1:c.657C>G	XP_011521790.1:p.Val219=
XM_011523489.1:c.657C>G	XP_011521791.1:p.Val219=
NM_001317184.1:c.1209C>G	NP_001304113.1:p.Val403=
NM_001317185.1:c.-157C>G	NP_001304114.1:n.-157C>G
NM_001317186.1:c.-428C>G	NP_001304115.1:n.-428C>G
NM_004360.4:c.1392C>G	NP_004351.1:p.Val464=
NM_004360.5:c.1392C>G MANE Select	NP_004351.1:p.Val464=
NM_001317184.2:c.1209C>G	NP_001304113.1:p.Val403=
NM_001317185.2:c.-157C>G	NP_001304114.1:n.-157C>G
NM_001317186.2:c.-428C>G	NP_001304115.1:n.-428C>G