Canonical Allele Identifier: CA470062094

Gene: CDH23

Linked Data

• ClinVar Variation Id: 1131227
• ClinVar RCV Id: RCV001465053
• dbSNP Id: rs111033495
• gnomAD v2: 10-73558271-G-A
• gnomAD v4: 10-71798514-G-A
• MyVariant Identifiers: chr10:g.73558271G>A (hg19) ; chr10:g.71798514G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71798514G>A , CM000672.2:g.71798514G>A	GRCh38
NC_000010.10:g.73558271G>A , CM000672.1:g.73558271G>A	GRCh37
NC_000010.9:g.73228277G>A	NCBI36
NG_008835.1:g.406568G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.6990G>A MANE Select	ENSP00000224721.9:p.Leu2330=
ENST00000642965.1:c.923G>A	ENSP00000495222.1:n.923G>A
ENST00000647092.1:c.587G>A	ENSP00000495176.1:n.587G>A
ENST00000224721.10:c.7005G>A	ENSP00000224721.8:p.Leu2335=
ENST00000398788.4:c.270G>A	ENSP00000381768.3:p.Leu90=
ENST00000475158.1:n.526G>A
ENST00000619887.4:c.270G>A	ENSP00000478374.1:p.Leu90=
ENST00000622827.4:c.6990G>A	ENSP00000483211.1:p.Leu2330=
NM_001171933.1:c.270G>A	NP_001165404.1:p.Leu90=
NM_001171934.1:c.270G>A	NP_001165405.1:p.Leu90=
NM_022124.5:c.6990G>A	NP_071407.4:p.Leu2330=
XM_006717940.2:c.7185G>A	XP_006718003.1:p.Leu2395=
XM_006717942.2:c.7119G>A	XP_006718005.1:p.Leu2373=
XM_011540039.1:c.7182G>A	XP_011538341.1:p.Leu2394=
XM_011540040.1:c.7179G>A	XP_011538342.1:p.Leu2393=
XM_011540041.1:c.7125G>A	XP_011538343.1:p.Leu2375=
XM_011540042.1:c.7095G>A	XP_011538344.1:p.Leu2365=
XM_011540043.1:c.7185G>A	XP_011538345.1:p.Leu2395=
XM_011540044.1:c.7050G>A	XP_011538346.1:p.Leu2350=
XM_011540045.1:c.7185G>A	XP_011538347.1:p.Leu2395=
XM_011540046.1:c.6645G>A	XP_011538348.1:p.Leu2215=
XM_011540047.1:c.6003G>A	XP_011538349.1:p.Leu2001=
XM_011540052.1:c.3513G>A	XP_011538354.1:p.Leu1171=
NM_022124.6:c.6990G>A MANE Select	NP_071407.4:p.Leu2330=