Canonical Allele Identifier: CA8130260

Gene: CDH1

Linked Data

• ClinVar Variation Id: 856908
• ClinVar RCV Id: RCV001062473 ; RCV001185076
• dbSNP Id: rs746274636
• ExAC: 16:68863606 T / C
• gnomAD v2: 16-68863606-T-C
• gnomAD v4: 16-68829703-T-C
• MyVariant Identifiers: chr16:g.68863606T>C (hg19) ; chr16:g.68829703T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68829703T>C , CM000678.2:g.68829703T>C	GRCh38
NC_000016.9:g.68863606T>C , CM000678.1:g.68863606T>C	GRCh37
NC_000016.8:g.67421107T>C	NCBI36
NG_008021.1:g.97412T>C , LRG_301:g.97412T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.2345T>C MANE Select	ENSP00000261769.4:p.Val782Ala
ENST00000261769.9:c.2345T>C	ENSP00000261769.4:p.Val782Ala
ENST00000422392.6:c.2162T>C	ENSP00000414946.2:p.Val721Ala
ENST00000562118.1:n.563T>C
ENST00000562836.5:n.2416T>C
ENST00000566510.5:c.*1011T>C	ENSP00000458139.1:n.*1011T>C
ENST00000566612.5:c.*585T>C	ENSP00000454782.1:n.*585T>C
ENST00000611625.4:c.2408T>C	ENSP00000481063.1:p.Val803Ala
ENST00000612417.4:c.1853+3149T>C	ENSP00000478360.1:n.1853+3149T>C
ENST00000621016.4:c.1866-4500T>C	ENSP00000480664.1:n.1866-4500T>C
NM_004360.3:c.2345T>C , LRG_301t1:c.2345T>C	NP_004351.1:p.Val782Ala
XM_011523488.1:c.1610T>C	XP_011521790.1:p.Val537Ala
XM_011523489.1:c.1610T>C	XP_011521791.1:p.Val537Ala
NM_001317184.1:c.2162T>C	NP_001304113.1:p.Val721Ala
NM_001317185.1:c.797T>C	NP_001304114.1:p.Val266Ala
NM_001317186.1:c.380T>C	NP_001304115.1:p.Val127Ala
NM_004360.4:c.2345T>C	NP_004351.1:p.Val782Ala
NM_004360.5:c.2345T>C MANE Select	NP_004351.1:p.Val782Ala
NM_001317184.2:c.2162T>C	NP_001304113.1:p.Val721Ala
NM_001317185.2:c.797T>C	NP_001304114.1:p.Val266Ala
NM_001317186.2:c.380T>C	NP_001304115.1:p.Val127Ala