Canonical Allele Identifier: CA396458520

Gene: CDH1

Linked Data

• ClinVar Variation Id: 963820
• ClinVar RCV Id: RCV001237905 ; RCV001776162 ; RCV004034564
• dbSNP Id: rs1960781848
• MyVariant Identifiers: chr16:g.68844148A>G (hg19) ; chr16:g.68810245A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68810245A>G , CM000678.2:g.68810245A>G	GRCh38
NC_000016.9:g.68844148A>G , CM000678.1:g.68844148A>G	GRCh37
NC_000016.8:g.67401649A>G	NCBI36
NG_008021.1:g.77954A>G , LRG_301:g.77954A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.736A>G MANE Select	ENSP00000261769.4:p.Met246Val
ENST00000261769.9:c.736A>G	ENSP00000261769.4:p.Met246Val
ENST00000422392.6:c.736A>G	ENSP00000414946.2:p.Met246Val
ENST00000561751.1:c.454+1397A>G
ENST00000562836.5:n.807A>G
ENST00000566510.5:c.580A>G	ENSP00000458139.1:p.Met194Val
ENST00000566612.5:c.736A>G	ENSP00000454782.1:p.Met246Val
ENST00000611625.4:c.736A>G	ENSP00000481063.1:p.Met246Val
ENST00000612417.4:c.736A>G	ENSP00000478360.1:p.Met246Val
ENST00000621016.4:c.736A>G	ENSP00000480664.1:p.Met246Val
NM_004360.3:c.736A>G , LRG_301t1:c.736A>G	NP_004351.1:p.Met246Val
XM_011523488.1:c.1A>G	XP_011521790.1:p.Met1Val
XM_011523489.1:c.1A>G	XP_011521791.1:p.Met1Val
NM_001317184.1:c.736A>G	NP_001304113.1:p.Met246Val
NM_001317185.1:c.-880A>G	NP_001304114.1:n.-880A>G
NM_001317186.1:c.-1084A>G	NP_001304115.1:n.-1084A>G
NM_004360.4:c.736A>G	NP_004351.1:p.Met246Val
NM_004360.5:c.736A>G MANE Select	NP_004351.1:p.Met246Val
NM_001317184.2:c.736A>G	NP_001304113.1:p.Met246Val
NM_001317185.2:c.-880A>G	NP_001304114.1:n.-880A>G
NM_001317186.2:c.-1084A>G	NP_001304115.1:n.-1084A>G