Canonical Allele Identifier: CA396466955

Gene: CDH1

Linked Data

• ClinVar Variation Id: 863627
• ClinVar RCV Id: RCV001070633
• dbSNP Id: rs1961163698
• MyVariant Identifiers: chr16:g.68856033T>A (hg19) ; chr16:g.68822130T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68822130T>A , CM000678.2:g.68822130T>A	GRCh38
NC_000016.9:g.68856033T>A , CM000678.1:g.68856033T>A	GRCh37
NC_000016.8:g.67413534T>A	NCBI36
NG_008021.1:g.89839T>A , LRG_301:g.89839T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.1841T>A MANE Select	ENSP00000261769.4:p.Ile614Asn
ENST00000261769.9:c.1841T>A	ENSP00000261769.4:p.Ile614Asn
ENST00000422392.6:c.1658T>A	ENSP00000414946.2:p.Ile553Asn
ENST00000562836.5:n.1912T>A
ENST00000566510.5:c.*507T>A	ENSP00000458139.1:n.*507T>A
ENST00000566612.5:c.*81T>A	ENSP00000454782.1:n.*81T>A
ENST00000611625.4:c.1904T>A	ENSP00000481063.1:p.Ile635Asn
ENST00000612417.4:c.1830+11T>A	ENSP00000478360.1:n.1830+11T>A
ENST00000621016.4:c.1841T>A	ENSP00000480664.1:p.Ile614Asn
NM_004360.3:c.1841T>A , LRG_301t1:c.1841T>A	NP_004351.1:p.Ile614Asn
XM_011523488.1:c.1106T>A	XP_011521790.1:p.Ile369Asn
XM_011523489.1:c.1106T>A	XP_011521791.1:p.Ile369Asn
NM_001317184.1:c.1658T>A	NP_001304113.1:p.Ile553Asn
NM_001317185.1:c.293T>A	NP_001304114.1:p.Ile98Asn
NM_001317186.1:c.-125T>A	NP_001304115.1:n.-125T>A
NM_004360.4:c.1841T>A	NP_004351.1:p.Ile614Asn
NM_004360.5:c.1841T>A MANE Select	NP_004351.1:p.Ile614Asn
NM_001317184.2:c.1658T>A	NP_001304113.1:p.Ile553Asn
NM_001317185.2:c.293T>A	NP_001304114.1:p.Ile98Asn
NM_001317186.2:c.-125T>A	NP_001304115.1:n.-125T>A