Canonical Allele Identifier: CA396471109

Gene: CDH1

Linked Data

• ClinVar Variation Id: 650210
• ClinVar RCV Id: RCV000805313
• dbSNP Id: rs1596972662
• MyVariant Identifiers: chr16:g.68863637G>C (hg19) ; chr16:g.68829734G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68829734G>C , CM000678.2:g.68829734G>C	GRCh38
NC_000016.9:g.68863637G>C , CM000678.1:g.68863637G>C	GRCh37
NC_000016.8:g.67421138G>C	NCBI36
NG_008021.1:g.97443G>C , LRG_301:g.97443G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.2376G>C MANE Select	ENSP00000261769.4:p.Met792Ile
ENST00000261769.9:c.2376G>C	ENSP00000261769.4:p.Met792Ile
ENST00000422392.6:c.2193G>C	ENSP00000414946.2:p.Met731Ile
ENST00000562118.1:n.594G>C
ENST00000562836.5:n.2447G>C
ENST00000566510.5:c.*1042G>C	ENSP00000458139.1:n.*1042G>C
ENST00000566612.5:c.*616G>C	ENSP00000454782.1:n.*616G>C
ENST00000611625.4:c.2439G>C	ENSP00000481063.1:p.Met813Ile
ENST00000612417.4:c.1853+3180G>C	ENSP00000478360.1:n.1853+3180G>C
ENST00000621016.4:c.1866-4469G>C	ENSP00000480664.1:n.1866-4469G>C
NM_004360.3:c.2376G>C , LRG_301t1:c.2376G>C	NP_004351.1:p.Met792Ile
XM_011523488.1:c.1641G>C	XP_011521790.1:p.Met547Ile
XM_011523489.1:c.1641G>C	XP_011521791.1:p.Met547Ile
NM_001317184.1:c.2193G>C	NP_001304113.1:p.Met731Ile
NM_001317185.1:c.828G>C	NP_001304114.1:p.Met276Ile
NM_001317186.1:c.411G>C	NP_001304115.1:p.Met137Ile
NM_004360.4:c.2376G>C	NP_004351.1:p.Met792Ile
NM_004360.5:c.2376G>C MANE Select	NP_004351.1:p.Met792Ile
NM_001317184.2:c.2193G>C	NP_001304113.1:p.Met731Ile
NM_001317185.2:c.828G>C	NP_001304114.1:p.Met276Ile
NM_001317186.2:c.411G>C	NP_001304115.1:p.Met137Ile