Canonical Allele Identifier: CA261801

Gene: CDH23

Linked Data

• ClinVar Variation Id: 46040
• ClinVar RCV Id: RCV000039276 ; RCV000725220 ; RCV000778289 ; RCV000988383 ; RCV001264702 ; RCV001374881 ; RCV001559300 ; RCV003473285 ; RCV003483451
• dbSNP Id: rs202052174
• ExAC: 10:73563128 G / A
• gnomAD v2: 10-73563128-G-A
• gnomAD v3: 10-71803371-G-A
• gnomAD v4: 10-71803371-G-A
• MyVariant Identifiers: chr10:g.73563128G>A (hg19) ; chr10:g.71803371G>A (hg38)
• PubMed: PMID:12075507 ; PMID:16963483 ; PMID:19683999 ; PMID:21174530

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71803371G>A , CM000672.2:g.71803371G>A	GRCh38
NC_000010.10:g.73563128G>A , CM000672.1:g.73563128G>A	GRCh37
NC_000010.9:g.73233134G>A	NCBI36
NG_008835.1:g.411425G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.7823G>A MANE Select	ENSP00000224721.9:p.Arg2608His
ENST00000642965.1:c.1756G>A	ENSP00000495222.1:n.1756G>A
ENST00000647092.1:c.1420G>A	ENSP00000495176.1:n.1420G>A
ENST00000224721.10:c.7838G>A	ENSP00000224721.8:p.Arg2613His
ENST00000398788.4:c.1103G>A	ENSP00000381768.3:p.Arg368His
ENST00000475158.1:n.1359G>A
ENST00000619887.4:c.1103G>A	ENSP00000478374.1:p.Arg368His
ENST00000622827.4:c.7823G>A	ENSP00000483211.1:p.Arg2608His
NM_001171933.1:c.1103G>A	NP_001165404.1:p.Arg368His
NM_001171934.1:c.1103G>A	NP_001165405.1:p.Arg368His
NM_022124.5:c.7823G>A	NP_071407.4:p.Arg2608His
XM_006717940.2:c.8018G>A	XP_006718003.1:p.Arg2673His
XM_006717942.2:c.7952G>A	XP_006718005.1:p.Arg2651His
XM_011540039.1:c.8015G>A	XP_011538341.1:p.Arg2672His
XM_011540040.1:c.8012G>A	XP_011538342.1:p.Arg2671His
XM_011540041.1:c.7958G>A	XP_011538343.1:p.Arg2653His
XM_011540042.1:c.7928G>A	XP_011538344.1:p.Arg2643His
XM_011540043.1:c.8018G>A	XP_011538345.1:p.Arg2673His
XM_011540044.1:c.7883G>A	XP_011538346.1:p.Arg2628His
XM_011540045.1:c.8018G>A	XP_011538347.1:p.Arg2673His
XM_011540046.1:c.7478G>A	XP_011538348.1:p.Arg2493His
XM_011540047.1:c.6836G>A	XP_011538349.1:p.Arg2279His
XM_011540052.1:c.4346G>A	XP_011538354.1:p.Arg1449His
NM_022124.6:c.7823G>A MANE Select	NP_071407.4:p.Arg2608His