Canonical Allele Identifier: CA209469637

Gene: CDH23

Linked Data

• ClinVar Variation Id: 843896
• ClinVar RCV Id: RCV001046611 ; RCV001274907 ; RCV001375226 ; RCV004545026
• dbSNP Id: rs995094571
• gnomAD v2: 10-73558261-T-A
• gnomAD v3: 10-71798504-T-A
• gnomAD v4: 10-71798504-T-A
• MyVariant Identifiers: chr10:g.73558261T>A (hg19) ; chr10:g.71798504T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71798504T>A , CM000672.2:g.71798504T>A	GRCh38
NC_000010.10:g.73558261T>A , CM000672.1:g.73558261T>A	GRCh37
NC_000010.9:g.73228267T>A	NCBI36
NG_008835.1:g.406558T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.6980T>A MANE Select	ENSP00000224721.9:p.Leu2327His
ENST00000642965.1:c.913T>A	ENSP00000495222.1:n.913T>A
ENST00000647092.1:c.577T>A	ENSP00000495176.1:n.577T>A
ENST00000224721.10:c.6995T>A	ENSP00000224721.8:p.Leu2332His
ENST00000398788.4:c.260T>A	ENSP00000381768.3:p.Leu87His
ENST00000475158.1:n.516T>A
ENST00000619887.4:c.260T>A	ENSP00000478374.1:p.Leu87His
ENST00000622827.4:c.6980T>A	ENSP00000483211.1:p.Leu2327His
NM_001171933.1:c.260T>A	NP_001165404.1:p.Leu87His
NM_001171934.1:c.260T>A	NP_001165405.1:p.Leu87His
NM_022124.5:c.6980T>A	NP_071407.4:p.Leu2327His
XM_006717940.2:c.7175T>A	XP_006718003.1:p.Leu2392His
XM_006717942.2:c.7109T>A	XP_006718005.1:p.Leu2370His
XM_011540039.1:c.7172T>A	XP_011538341.1:p.Leu2391His
XM_011540040.1:c.7169T>A	XP_011538342.1:p.Leu2390His
XM_011540041.1:c.7115T>A	XP_011538343.1:p.Leu2372His
XM_011540042.1:c.7085T>A	XP_011538344.1:p.Leu2362His
XM_011540043.1:c.7175T>A	XP_011538345.1:p.Leu2392His
XM_011540044.1:c.7040T>A	XP_011538346.1:p.Leu2347His
XM_011540045.1:c.7175T>A	XP_011538347.1:p.Leu2392His
XM_011540046.1:c.6635T>A	XP_011538348.1:p.Leu2212His
XM_011540047.1:c.5993T>A	XP_011538349.1:p.Leu1998His
XM_011540052.1:c.3503T>A	XP_011538354.1:p.Leu1168His
NM_022124.6:c.6980T>A MANE Select	NP_071407.4:p.Leu2327His