Canonical Allele Identifier: CA396472650

Gene: CDH1

Linked Data

• ClinVar Variation Id: 2915498
• ClinVar RCV Id: RCV003625023
• dbSNP Id: rs587782623
• MyVariant Identifiers: chr16:g.68867353A>C (hg19) ; chr16:g.68833450A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68833450A>C , CM000678.2:g.68833450A>C	GRCh38
NC_000016.9:g.68867353A>C , CM000678.1:g.68867353A>C	GRCh37
NC_000016.8:g.67424854A>C	NCBI36
NG_008021.1:g.101159A>C , LRG_301:g.101159A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.2600A>C MANE Select	ENSP00000261769.4:p.Asn867Thr
ENST00000261769.9:c.2600A>C	ENSP00000261769.4:p.Asn867Thr
ENST00000422392.6:c.2417A>C	ENSP00000414946.2:p.Asn806Thr
ENST00000562118.1:n.818A>C
ENST00000562836.5:n.2671A>C
ENST00000566510.5:c.*1266A>C	ENSP00000458139.1:n.*1266A>C
ENST00000566612.5:c.*840A>C	ENSP00000454782.1:n.*840A>C
ENST00000611625.4:c.2663A>C	ENSP00000481063.1:p.Asn888Thr
ENST00000612417.4:c.1854-741A>C	ENSP00000478360.1:n.1854-741A>C
ENST00000621016.4:c.1866-753A>C	ENSP00000480664.1:n.1866-753A>C
NM_004360.3:c.2600A>C , LRG_301t1:c.2600A>C	NP_004351.1:p.Asn867Thr
XM_011523488.1:c.1865A>C	XP_011521790.1:p.Asn622Thr
XM_011523489.1:c.1865A>C	XP_011521791.1:p.Asn622Thr
NM_001317184.1:c.2417A>C	NP_001304113.1:p.Asn806Thr
NM_001317185.1:c.1052A>C	NP_001304114.1:p.Asn351Thr
NM_001317186.1:c.635A>C	NP_001304115.1:p.Asn212Thr
NM_004360.4:c.2600A>C	NP_004351.1:p.Asn867Thr
NM_004360.5:c.2600A>C MANE Select	NP_004351.1:p.Asn867Thr
NM_001317184.2:c.2417A>C	NP_001304113.1:p.Asn806Thr
NM_001317185.2:c.1052A>C	NP_001304114.1:p.Asn351Thr
NM_001317186.2:c.635A>C	NP_001304115.1:p.Asn212Thr