Canonical Allele Identifier: CA200814

Gene: CDH3

Linked Data

• ClinVar Variation Id: 193847
• ClinVar RCV Id: RCV000174054 ; RCV000385875 ; RCV000894059 ; RCV003947470
• dbSNP Id: rs138190335
• ExAC: 16:68719119 T / C
• gnomAD v2: 16-68719119-T-C
• gnomAD v3: 16-68685216-T-C
• gnomAD v4: 16-68685216-T-C
• MyVariant Identifiers: chr16:g.68719119T>C (hg19) ; chr16:g.68685216T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68685216T>C , CM000678.2:g.68685216T>C	GRCh38
NC_000016.9:g.68719119T>C , CM000678.1:g.68719119T>C	GRCh37
NC_000016.8:g.67276620T>C	NCBI36
NG_009096.1:g.45969T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264012.9:c.1436T>C MANE Select	ENSP00000264012.4:p.Leu479Pro
ENST00000264012.8:c.1436T>C	ENSP00000264012.4:p.Leu479Pro
ENST00000429102.6:c.1436T>C	ENSP00000398485.2:p.Leu479Pro
ENST00000542274.5:c.*1174T>C	ENSP00000464021.1:n.*1174T>C
NM_001793.4:c.1436T>C	NP_001784.2:p.Leu479Pro
XM_011522800.1:c.1436T>C	XP_011521102.1:p.Leu479Pro
NM_001317195.1:c.1436T>C	NP_001304124.1:p.Leu479Pro
NM_001317196.1:c.1271T>C	NP_001304125.1:p.Leu424Pro
NM_001793.5:c.1436T>C	NP_001784.2:p.Leu479Pro
XM_011522800.3:c.1436T>C	XP_011521102.1:p.Leu479Pro
NM_001793.6:c.1436T>C MANE Select	NP_001784.2:p.Leu479Pro
NM_001317195.2:c.1436T>C	NP_001304124.1:p.Leu479Pro
NM_001317196.2:c.1271T>C	NP_001304125.1:p.Leu424Pro
NM_001317195.3:c.1436T>C	NP_001304124.1:p.Leu479Pro