Canonical Allele Identifier: CA137571

Gene: CDH23

Linked Data

• ClinVar Variation Id: 46032
• ClinVar RCV Id: RCV000039268 ; RCV000725960 ; RCV000763667 ; RCV001108081 ; RCV001108080 ; RCV001276040
• dbSNP Id: rs41281336
• ExAC: 10:73560498 G / A
• gnomAD v2: 10-73560498-G-A
• gnomAD v3: 10-71800741-G-A
• gnomAD v4: 10-71800741-G-A
• COSMIC: COSM256590
• MyVariant Identifiers: chr10:g.73560498G>A (hg19) ; chr10:g.71800741G>A (hg38)
• PubMed: PMID:20146813

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71800741G>A , CM000672.2:g.71800741G>A	GRCh38
NC_000010.10:g.73560498G>A , CM000672.1:g.73560498G>A	GRCh37
NC_000010.9:g.73230504G>A	NCBI36
NG_008835.1:g.408795G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.7468G>A MANE Select	ENSP00000224721.9:p.Glu2490Lys
ENST00000642965.1:c.1401G>A	ENSP00000495222.1:n.1401G>A
ENST00000647092.1:c.1065G>A	ENSP00000495176.1:n.1065G>A
ENST00000224721.10:c.7483G>A	ENSP00000224721.8:p.Glu2495Lys
ENST00000398788.4:c.748G>A	ENSP00000381768.3:p.Glu250Lys
ENST00000475158.1:n.1004G>A
ENST00000619887.4:c.748G>A	ENSP00000478374.1:p.Glu250Lys
ENST00000622827.4:c.7468G>A	ENSP00000483211.1:p.Glu2490Lys
NM_001171933.1:c.748G>A	NP_001165404.1:p.Glu250Lys
NM_001171934.1:c.748G>A	NP_001165405.1:p.Glu250Lys
NM_022124.5:c.7468G>A	NP_071407.4:p.Glu2490Lys
XM_006717940.2:c.7663G>A	XP_006718003.1:p.Glu2555Lys
XM_006717942.2:c.7597G>A	XP_006718005.1:p.Glu2533Lys
XM_011540039.1:c.7660G>A	XP_011538341.1:p.Glu2554Lys
XM_011540040.1:c.7657G>A	XP_011538342.1:p.Glu2553Lys
XM_011540041.1:c.7603G>A	XP_011538343.1:p.Glu2535Lys
XM_011540042.1:c.7573G>A	XP_011538344.1:p.Glu2525Lys
XM_011540043.1:c.7663G>A	XP_011538345.1:p.Glu2555Lys
XM_011540044.1:c.7528G>A	XP_011538346.1:p.Glu2510Lys
XM_011540045.1:c.7663G>A	XP_011538347.1:p.Glu2555Lys
XM_011540046.1:c.7123G>A	XP_011538348.1:p.Glu2375Lys
XM_011540047.1:c.6481G>A	XP_011538349.1:p.Glu2161Lys
XM_011540052.1:c.3991G>A	XP_011538354.1:p.Glu1331Lys
NM_022124.6:c.7468G>A MANE Select	NP_071407.4:p.Glu2490Lys