Canonical Allele Identifier: CA396472737

Gene: CDH1

Linked Data

• ClinVar Variation Id: 1501619
• ClinVar RCV Id: RCV002017602
• dbSNP Id: rs2152144195
• MyVariant Identifiers: chr16:g.68867366G>C (hg19) ; chr16:g.68833463G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68833463G>C , CM000678.2:g.68833463G>C	GRCh38
NC_000016.9:g.68867366G>C , CM000678.1:g.68867366G>C	GRCh37
NC_000016.8:g.67424867G>C	NCBI36
NG_008021.1:g.101172G>C , LRG_301:g.101172G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.2613G>C MANE Select	ENSP00000261769.4:p.Lys871Asn
ENST00000261769.9:c.2613G>C	ENSP00000261769.4:p.Lys871Asn
ENST00000422392.6:c.2430G>C	ENSP00000414946.2:p.Lys810Asn
ENST00000562118.1:n.831G>C
ENST00000562836.5:n.2684G>C
ENST00000566510.5:c.*1279G>C	ENSP00000458139.1:n.*1279G>C
ENST00000566612.5:c.*853G>C	ENSP00000454782.1:n.*853G>C
ENST00000611625.4:c.2676G>C	ENSP00000481063.1:p.Lys892Asn
ENST00000612417.4:c.1854-728G>C	ENSP00000478360.1:n.1854-728G>C
ENST00000621016.4:c.1866-740G>C	ENSP00000480664.1:n.1866-740G>C
NM_004360.3:c.2613G>C , LRG_301t1:c.2613G>C	NP_004351.1:p.Lys871Asn
XM_011523488.1:c.1878G>C	XP_011521790.1:p.Lys626Asn
XM_011523489.1:c.1878G>C	XP_011521791.1:p.Lys626Asn
NM_001317184.1:c.2430G>C	NP_001304113.1:p.Lys810Asn
NM_001317185.1:c.1065G>C	NP_001304114.1:p.Lys355Asn
NM_001317186.1:c.648G>C	NP_001304115.1:p.Lys216Asn
NM_004360.4:c.2613G>C	NP_004351.1:p.Lys871Asn
NM_004360.5:c.2613G>C MANE Select	NP_004351.1:p.Lys871Asn
NM_001317184.2:c.2430G>C	NP_001304113.1:p.Lys810Asn
NM_001317185.2:c.1065G>C	NP_001304114.1:p.Lys355Asn
NM_001317186.2:c.648G>C	NP_001304115.1:p.Lys216Asn