Canonical Allele Identifier: CA396467243

Gene: CDH1

Linked Data

• ClinVar Variation Id: 481677
• ClinVar RCV Id: RCV000564925 ; RCV000695428
• dbSNP Id: rs1555516895
• gnomAD v4: 16-68822204-A-G
• MyVariant Identifiers: chr16:g.68856107A>G (hg19) ; chr16:g.68822204A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68822204A>G , CM000678.2:g.68822204A>G	GRCh38
NC_000016.9:g.68856107A>G , CM000678.1:g.68856107A>G	GRCh37
NC_000016.8:g.67413608A>G	NCBI36
NG_008021.1:g.89913A>G , LRG_301:g.89913A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.1915A>G MANE Select	ENSP00000261769.4:p.Thr639Ala
ENST00000261769.9:c.1915A>G	ENSP00000261769.4:p.Thr639Ala
ENST00000422392.6:c.1732A>G	ENSP00000414946.2:p.Thr578Ala
ENST00000562836.5:n.1986A>G
ENST00000566510.5:c.*581A>G	ENSP00000458139.1:n.*581A>G
ENST00000566612.5:c.*155A>G	ENSP00000454782.1:n.*155A>G
ENST00000611625.4:c.1978A>G	ENSP00000481063.1:p.Thr660Ala
ENST00000612417.4:c.1830+85A>G	ENSP00000478360.1:n.1830+85A>G
ENST00000621016.4:c.1865+50A>G	ENSP00000480664.1:n.1865+50A>G
NM_004360.3:c.1915A>G , LRG_301t1:c.1915A>G	NP_004351.1:p.Thr639Ala
XM_011523488.1:c.1180A>G	XP_011521790.1:p.Thr394Ala
XM_011523489.1:c.1180A>G	XP_011521791.1:p.Thr394Ala
NM_001317184.1:c.1732A>G	NP_001304113.1:p.Thr578Ala
NM_001317185.1:c.367A>G	NP_001304114.1:p.Thr123Ala
NM_001317186.1:c.-51A>G	NP_001304115.1:n.-51A>G
NM_004360.4:c.1915A>G	NP_004351.1:p.Thr639Ala
NM_004360.5:c.1915A>G MANE Select	NP_004351.1:p.Thr639Ala
NM_001317184.2:c.1732A>G	NP_001304113.1:p.Thr578Ala
NM_001317185.2:c.367A>G	NP_001304114.1:p.Thr123Ala
NM_001317186.2:c.-51A>G	NP_001304115.1:n.-51A>G