Canonical Allele Identifier: CA396471950

Gene: CDH1

Linked Data

• dbSNP Id: rs2152143831
• gnomAD v4: 16-68833293-C-G
• MyVariant Identifiers: chr16:g.68867196C>G (hg19) ; chr16:g.68833293C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68833293C>G , CM000678.2:g.68833293C>G	GRCh38
NC_000016.9:g.68867196C>G , CM000678.1:g.68867196C>G	GRCh37
NC_000016.8:g.67424697C>G	NCBI36
NG_008021.1:g.101002C>G , LRG_301:g.101002C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.2443C>G MANE Select	ENSP00000261769.4:p.Leu815Val
ENST00000261769.9:c.2443C>G	ENSP00000261769.4:p.Leu815Val
ENST00000422392.6:c.2260C>G	ENSP00000414946.2:p.Leu754Val
ENST00000562118.1:n.661C>G
ENST00000562836.5:n.2514C>G
ENST00000566510.5:c.*1109C>G	ENSP00000458139.1:n.*1109C>G
ENST00000566612.5:c.*683C>G	ENSP00000454782.1:n.*683C>G
ENST00000611625.4:c.2506C>G	ENSP00000481063.1:p.Leu836Val
ENST00000612417.4:c.1854-898C>G	ENSP00000478360.1:n.1854-898C>G
ENST00000621016.4:c.1866-910C>G	ENSP00000480664.1:n.1866-910C>G
NM_004360.3:c.2443C>G , LRG_301t1:c.2443C>G	NP_004351.1:p.Leu815Val
XM_011523488.1:c.1708C>G	XP_011521790.1:p.Leu570Val
XM_011523489.1:c.1708C>G	XP_011521791.1:p.Leu570Val
NM_001317184.1:c.2260C>G	NP_001304113.1:p.Leu754Val
NM_001317185.1:c.895C>G	NP_001304114.1:p.Leu299Val
NM_001317186.1:c.478C>G	NP_001304115.1:p.Leu160Val
NM_004360.4:c.2443C>G	NP_004351.1:p.Leu815Val
NM_004360.5:c.2443C>G MANE Select	NP_004351.1:p.Leu815Val
NM_001317184.2:c.2260C>G	NP_001304113.1:p.Leu754Val
NM_001317185.2:c.895C>G	NP_001304114.1:p.Leu299Val
NM_001317186.2:c.478C>G	NP_001304115.1:p.Leu160Val