Canonical Allele Identifier: CA223630

Gene: CDH23

Linked Data

• ClinVar Variation Id: 96026
• ClinVar RCV Id: RCV000082088 ; RCV000764922 ; RCV001831884
• dbSNP Id: rs371522435
• ExAC: 10:73558330 C / T
• gnomAD v2: 10-73558330-C-T
• gnomAD v3: 10-71798573-C-T
• gnomAD v4: 10-71798573-C-T
• MyVariant Identifiers: chr10:g.73558330C>T (hg19) ; chr10:g.71798573C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71798573C>T , CM000672.2:g.71798573C>T	GRCh38
NC_000010.10:g.73558330C>T , CM000672.1:g.73558330C>T	GRCh37
NC_000010.9:g.73228336C>T	NCBI36
NG_008835.1:g.406627C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.7049C>T MANE Select	ENSP00000224721.9:p.Ser2350Leu
ENST00000642965.1:c.982C>T	ENSP00000495222.1:n.982C>T
ENST00000647092.1:c.646C>T	ENSP00000495176.1:n.646C>T
ENST00000224721.10:c.7064C>T	ENSP00000224721.8:p.Ser2355Leu
ENST00000398788.4:c.329C>T	ENSP00000381768.3:p.Ser110Leu
ENST00000475158.1:n.585C>T
ENST00000619887.4:c.329C>T	ENSP00000478374.1:p.Ser110Leu
ENST00000622827.4:c.7049C>T	ENSP00000483211.1:p.Ser2350Leu
NM_001171933.1:c.329C>T	NP_001165404.1:p.Ser110Leu
NM_001171934.1:c.329C>T	NP_001165405.1:p.Ser110Leu
NM_022124.5:c.7049C>T	NP_071407.4:p.Ser2350Leu
XM_006717940.2:c.7244C>T	XP_006718003.1:p.Ser2415Leu
XM_006717942.2:c.7178C>T	XP_006718005.1:p.Ser2393Leu
XM_011540039.1:c.7241C>T	XP_011538341.1:p.Ser2414Leu
XM_011540040.1:c.7238C>T	XP_011538342.1:p.Ser2413Leu
XM_011540041.1:c.7184C>T	XP_011538343.1:p.Ser2395Leu
XM_011540042.1:c.7154C>T	XP_011538344.1:p.Ser2385Leu
XM_011540043.1:c.7244C>T	XP_011538345.1:p.Ser2415Leu
XM_011540044.1:c.7109C>T	XP_011538346.1:p.Ser2370Leu
XM_011540045.1:c.7244C>T	XP_011538347.1:p.Ser2415Leu
XM_011540046.1:c.6704C>T	XP_011538348.1:p.Ser2235Leu
XM_011540047.1:c.6062C>T	XP_011538349.1:p.Ser2021Leu
XM_011540052.1:c.3572C>T	XP_011538354.1:p.Ser1191Leu
NM_022124.6:c.7049C>T MANE Select	NP_071407.4:p.Ser2350Leu