Canonical Allele Identifier: CA396471244

Gene: CDH1

Linked Data

• ClinVar Variation Id: 2879117
• ClinVar RCV Id: RCV003624043
• gnomAD v4: 16-68829766-A-G
• MyVariant Identifiers: chr16:g.68863669A>G (hg19) ; chr16:g.68829766A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68829766A>G , CM000678.2:g.68829766A>G	GRCh38
NC_000016.9:g.68863669A>G , CM000678.1:g.68863669A>G	GRCh37
NC_000016.8:g.67421170A>G	NCBI36
NG_008021.1:g.97475A>G , LRG_301:g.97475A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.2408A>G MANE Select	ENSP00000261769.4:p.Asn803Ser
ENST00000261769.9:c.2408A>G	ENSP00000261769.4:p.Asn803Ser
ENST00000422392.6:c.2225A>G	ENSP00000414946.2:p.Asn742Ser
ENST00000562118.1:n.626A>G
ENST00000562836.5:n.2479A>G
ENST00000566510.5:c.*1074A>G	ENSP00000458139.1:n.*1074A>G
ENST00000566612.5:c.*648A>G	ENSP00000454782.1:n.*648A>G
ENST00000611625.4:c.2471A>G	ENSP00000481063.1:p.Asn824Ser
ENST00000612417.4:c.1853+3212A>G	ENSP00000478360.1:n.1853+3212A>G
ENST00000621016.4:c.1866-4437A>G	ENSP00000480664.1:n.1866-4437A>G
NM_004360.3:c.2408A>G , LRG_301t1:c.2408A>G	NP_004351.1:p.Asn803Ser
XM_011523488.1:c.1673A>G	XP_011521790.1:p.Asn558Ser
XM_011523489.1:c.1673A>G	XP_011521791.1:p.Asn558Ser
NM_001317184.1:c.2225A>G	NP_001304113.1:p.Asn742Ser
NM_001317185.1:c.860A>G	NP_001304114.1:p.Asn287Ser
NM_001317186.1:c.443A>G	NP_001304115.1:p.Asn148Ser
NM_004360.4:c.2408A>G	NP_004351.1:p.Asn803Ser
NM_004360.5:c.2408A>G MANE Select	NP_004351.1:p.Asn803Ser
NM_001317184.2:c.2225A>G	NP_001304113.1:p.Asn742Ser
NM_001317185.2:c.860A>G	NP_001304114.1:p.Asn287Ser
NM_001317186.2:c.443A>G	NP_001304115.1:p.Asn148Ser