Canonical Allele Identifier: CA396470722

Gene: CDH1

Linked Data

• ClinVar Variation Id: 1352008
• ClinVar RCV Id: RCV002047276 ; RCV002449465
• dbSNP Id: rs1471460728
• gnomAD v4: 16-68829654-G-C
• MyVariant Identifiers: chr16:g.68863557G>C (hg19) ; chr16:g.68829654G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68829654G>C , CM000678.2:g.68829654G>C	GRCh38
NC_000016.9:g.68863557G>C , CM000678.1:g.68863557G>C	GRCh37
NC_000016.8:g.67421058G>C	NCBI36
NG_008021.1:g.97363G>C , LRG_301:g.97363G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.2296G>C MANE Select	ENSP00000261769.4:p.Asp766His
ENST00000261769.9:c.2296G>C	ENSP00000261769.4:p.Asp766His
ENST00000422392.6:c.2113G>C	ENSP00000414946.2:p.Asp705His
ENST00000562118.1:n.514G>C
ENST00000562836.5:n.2367G>C
ENST00000566510.5:c.*962G>C	ENSP00000458139.1:n.*962G>C
ENST00000566612.5:c.*536G>C	ENSP00000454782.1:n.*536G>C
ENST00000611625.4:c.2359G>C	ENSP00000481063.1:p.Asp787His
ENST00000612417.4:c.1853+3100G>C	ENSP00000478360.1:n.1853+3100G>C
ENST00000621016.4:c.1866-4549G>C	ENSP00000480664.1:n.1866-4549G>C
NM_004360.3:c.2296G>C , LRG_301t1:c.2296G>C	NP_004351.1:p.Asp766His
XM_011523488.1:c.1561G>C	XP_011521790.1:p.Asp521His
XM_011523489.1:c.1561G>C	XP_011521791.1:p.Asp521His
NM_001317184.1:c.2113G>C	NP_001304113.1:p.Asp705His
NM_001317185.1:c.748G>C	NP_001304114.1:p.Asp250His
NM_001317186.1:c.331G>C	NP_001304115.1:p.Asp111His
NM_004360.4:c.2296G>C	NP_004351.1:p.Asp766His
NM_004360.5:c.2296G>C MANE Select	NP_004351.1:p.Asp766His
NM_001317184.2:c.2113G>C	NP_001304113.1:p.Asp705His
NM_001317185.2:c.748G>C	NP_001304114.1:p.Asp250His
NM_001317186.2:c.331G>C	NP_001304115.1:p.Asp111His