Canonical Allele Identifier: CA8130319

Gene: CDH1

Linked Data

• ClinVar Variation Id: 486827
• ClinVar RCV Id: RCV000571884 ; RCV001558305
• dbSNP Id: rs753123245
• ExAC: 16:68867405 G / C
• gnomAD v2: 16-68867405-G-C
• gnomAD v3: 16-68833502-G-C
• gnomAD v4: 16-68833502-G-C
• MyVariant Identifiers: chr16:g.68867405G>C (hg19) ; chr16:g.68833502G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68833502G>C , CM000678.2:g.68833502G>C	GRCh38
NC_000016.9:g.68867405G>C , CM000678.1:g.68867405G>C	GRCh37
NC_000016.8:g.67424906G>C	NCBI36
NG_008021.1:g.101211G>C , LRG_301:g.101211G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.*3G>C MANE Select	ENSP00000261769.4:n.*3G>C
ENST00000261769.9:c.*3G>C	ENSP00000261769.4:n.*3G>C
ENST00000422392.6:c.*3G>C	ENSP00000414946.2:n.*3G>C
ENST00000562118.1:n.870G>C
ENST00000562836.5:n.2723G>C
ENST00000566510.5:c.*1318G>C	ENSP00000458139.1:n.*1318G>C
ENST00000566612.5:c.*892G>C	ENSP00000454782.1:n.*892G>C
ENST00000611625.4:c.*3G>C	ENSP00000481063.1:n.*3G>C
ENST00000612417.4:c.1854-689G>C	ENSP00000478360.1:n.1854-689G>C
ENST00000621016.4:c.1866-701G>C	ENSP00000480664.1:n.1866-701G>C
NM_004360.3:c.*3G>C , LRG_301t1:c.*3G>C	NP_004351.1:n.*3G>C
XM_011523488.1:c.*3G>C	XP_011521790.1:n.*3G>C
XM_011523489.1:c.*3G>C	XP_011521791.1:n.*3G>C
NM_001317184.1:c.*3G>C	NP_001304113.1:n.*3G>C
NM_001317185.1:c.*3G>C	NP_001304114.1:n.*3G>C
NM_001317186.1:c.*3G>C	NP_001304115.1:n.*3G>C
NM_004360.4:c.*3G>C	NP_004351.1:n.*3G>C
NM_004360.5:c.*3G>C MANE Select	NP_004351.1:n.*3G>C
NM_001317184.2:c.*3G>C	NP_001304113.1:n.*3G>C
NM_001317185.2:c.*3G>C	NP_001304114.1:n.*3G>C
NM_001317186.2:c.*3G>C	NP_001304115.1:n.*3G>C