Canonical Allele Identifier: CA396462734

Gene: CDH1

Linked Data

• ClinVar Variation Id: 3224144
• ClinVar RCV Id: RCV004518870
• dbSNP Id: rs2152134716
• MyVariant Identifiers: chr16:g.68849444G>C (hg19) ; chr16:g.68815541G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68815541G>C , CM000678.2:g.68815541G>C	GRCh38
NC_000016.9:g.68849444G>C , CM000678.1:g.68849444G>C	GRCh37
NC_000016.8:g.67406945G>C	NCBI36
NG_008021.1:g.83250G>C , LRG_301:g.83250G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.1347G>C MANE Select	ENSP00000261769.4:p.Gln449His
ENST00000261769.9:c.1347G>C	ENSP00000261769.4:p.Gln449His
ENST00000422392.6:c.1164G>C	ENSP00000414946.2:p.Gln388His
ENST00000562836.5:n.1418G>C
ENST00000566510.5:c.*13G>C	ENSP00000458139.1:n.*13G>C
ENST00000566612.5:c.1347G>C	ENSP00000454782.1:p.Gln449His
ENST00000611625.4:c.1410G>C	ENSP00000481063.1:p.Gln470His
ENST00000612417.4:c.1347G>C	ENSP00000478360.1:p.Gln449His
ENST00000621016.4:c.1347G>C	ENSP00000480664.1:p.Gln449His
NM_004360.3:c.1347G>C , LRG_301t1:c.1347G>C	NP_004351.1:p.Gln449His
XM_011523488.1:c.612G>C	XP_011521790.1:p.Gln204His
XM_011523489.1:c.612G>C	XP_011521791.1:p.Gln204His
NM_001317184.1:c.1164G>C	NP_001304113.1:p.Gln388His
NM_001317185.1:c.-202G>C	NP_001304114.1:n.-202G>C
NM_001317186.1:c.-473G>C	NP_001304115.1:n.-473G>C
NM_004360.4:c.1347G>C	NP_004351.1:p.Gln449His
NM_004360.5:c.1347G>C MANE Select	NP_004351.1:p.Gln449His
NM_001317184.2:c.1164G>C	NP_001304113.1:p.Gln388His
NM_001317185.2:c.-202G>C	NP_001304114.1:n.-202G>C
NM_001317186.2:c.-473G>C	NP_001304115.1:n.-473G>C