Canonical Allele Identifier: CA283319781

Gene: CDH1

Linked Data

• ClinVar Variation Id: 928544
• ClinVar RCV Id: RCV001192625 ; RCV003462667
• dbSNP Id: rs900118000
• gnomAD v2: 16-68867377-T-G
• gnomAD v4: 16-68833474-T-G
• MyVariant Identifiers: chr16:g.68867377T>G (hg19) ; chr16:g.68833474T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68833474T>G , CM000678.2:g.68833474T>G	GRCh38
NC_000016.9:g.68867377T>G , CM000678.1:g.68867377T>G	GRCh37
NC_000016.8:g.67424878T>G	NCBI36
NG_008021.1:g.101183T>G , LRG_301:g.101183T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.2624T>G MANE Select	ENSP00000261769.4:p.Met875Arg
ENST00000261769.9:c.2624T>G	ENSP00000261769.4:p.Met875Arg
ENST00000422392.6:c.2441T>G	ENSP00000414946.2:p.Met814Arg
ENST00000562118.1:n.842T>G
ENST00000562836.5:n.2695T>G
ENST00000566510.5:c.*1290T>G	ENSP00000458139.1:n.*1290T>G
ENST00000566612.5:c.*864T>G	ENSP00000454782.1:n.*864T>G
ENST00000611625.4:c.2687T>G	ENSP00000481063.1:p.Met896Arg
ENST00000612417.4:c.1854-717T>G	ENSP00000478360.1:n.1854-717T>G
ENST00000621016.4:c.1866-729T>G	ENSP00000480664.1:n.1866-729T>G
NM_004360.3:c.2624T>G , LRG_301t1:c.2624T>G	NP_004351.1:p.Met875Arg
XM_011523488.1:c.1889T>G	XP_011521790.1:p.Met630Arg
XM_011523489.1:c.1889T>G	XP_011521791.1:p.Met630Arg
NM_001317184.1:c.2441T>G	NP_001304113.1:p.Met814Arg
NM_001317185.1:c.1076T>G	NP_001304114.1:p.Met359Arg
NM_001317186.1:c.659T>G	NP_001304115.1:p.Met220Arg
NM_004360.4:c.2624T>G	NP_004351.1:p.Met875Arg
NM_004360.5:c.2624T>G MANE Select	NP_004351.1:p.Met875Arg
NM_001317184.2:c.2441T>G	NP_001304113.1:p.Met814Arg
NM_001317185.2:c.1076T>G	NP_001304114.1:p.Met359Arg
NM_001317186.2:c.659T>G	NP_001304115.1:p.Met220Arg