Canonical Allele Identifier: CA396465393

Gene: CDH1

Linked Data

• ClinVar Variation Id: 1778172
• ClinVar RCV Id: RCV002406179
• dbSNP Id: rs1961080115
• MyVariant Identifiers: chr16:g.68853310A>C (hg19) ; chr16:g.68819407A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68819407A>C , CM000678.2:g.68819407A>C	GRCh38
NC_000016.9:g.68853310A>C , CM000678.1:g.68853310A>C	GRCh37
NC_000016.8:g.67410811A>C	NCBI36
NG_008021.1:g.87116A>C , LRG_301:g.87116A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.1693A>C MANE Select	ENSP00000261769.4:p.Ile565Leu
ENST00000261769.9:c.1693A>C	ENSP00000261769.4:p.Ile565Leu
ENST00000422392.6:c.1510A>C	ENSP00000414946.2:p.Ile504Leu
ENST00000562836.5:n.1764A>C
ENST00000566510.5:c.*359A>C	ENSP00000458139.1:n.*359A>C
ENST00000566612.5:c.1566-2594A>C	ENSP00000454782.1:n.1566-2594A>C
ENST00000611625.4:c.1756A>C	ENSP00000481063.1:p.Ile586Leu
ENST00000612417.4:c.1693A>C	ENSP00000478360.1:p.Ile565Leu
ENST00000621016.4:c.1693A>C	ENSP00000480664.1:p.Ile565Leu
NM_004360.3:c.1693A>C , LRG_301t1:c.1693A>C	NP_004351.1:p.Ile565Leu
XM_011523488.1:c.958A>C	XP_011521790.1:p.Ile320Leu
XM_011523489.1:c.958A>C	XP_011521791.1:p.Ile320Leu
NM_001317184.1:c.1510A>C	NP_001304113.1:p.Ile504Leu
NM_001317185.1:c.145A>C	NP_001304114.1:p.Ile49Leu
NM_001317186.1:c.-254-2594A>C	NP_001304115.1:n.-254-2594A>C
NM_004360.4:c.1693A>C	NP_004351.1:p.Ile565Leu
NM_004360.5:c.1693A>C MANE Select	NP_004351.1:p.Ile565Leu
NM_001317184.2:c.1510A>C	NP_001304113.1:p.Ile504Leu
NM_001317185.2:c.145A>C	NP_001304114.1:p.Ile49Leu
NM_001317186.2:c.-254-2594A>C	NP_001304115.1:n.-254-2594A>C