Canonical Allele Identifier: CA470062234

Gene: CDH23

Linked Data

• dbSNP Id: rs979343566
• gnomAD v2: 10-73560398-C-T
• gnomAD v4: 10-71800641-C-T
• COSMIC: COSM3368109
• MyVariant Identifiers: chr10:g.73560398C>T (hg19) ; chr10:g.71800641C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71800641C>T , CM000672.2:g.71800641C>T	GRCh38
NC_000010.10:g.73560398C>T , CM000672.1:g.73560398C>T	GRCh37
NC_000010.9:g.73230404C>T	NCBI36
NG_008835.1:g.408695C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.7368C>T MANE Select	ENSP00000224721.9:p.Asp2456=
ENST00000642965.1:c.1301C>T	ENSP00000495222.1:n.1301C>T
ENST00000647092.1:c.965C>T	ENSP00000495176.1:n.965C>T
ENST00000224721.10:c.7383C>T	ENSP00000224721.8:p.Asp2461=
ENST00000398788.4:c.648C>T	ENSP00000381768.3:p.Asp216=
ENST00000475158.1:n.904C>T
ENST00000619887.4:c.648C>T	ENSP00000478374.1:p.Asp216=
ENST00000622827.4:c.7368C>T	ENSP00000483211.1:p.Asp2456=
NM_001171933.1:c.648C>T	NP_001165404.1:p.Asp216=
NM_001171934.1:c.648C>T	NP_001165405.1:p.Asp216=
NM_022124.5:c.7368C>T	NP_071407.4:p.Asp2456=
XM_006717940.2:c.7563C>T	XP_006718003.1:p.Asp2521=
XM_006717942.2:c.7497C>T	XP_006718005.1:p.Asp2499=
XM_011540039.1:c.7560C>T	XP_011538341.1:p.Asp2520=
XM_011540040.1:c.7557C>T	XP_011538342.1:p.Asp2519=
XM_011540041.1:c.7503C>T	XP_011538343.1:p.Asp2501=
XM_011540042.1:c.7473C>T	XP_011538344.1:p.Asp2491=
XM_011540043.1:c.7563C>T	XP_011538345.1:p.Asp2521=
XM_011540044.1:c.7428C>T	XP_011538346.1:p.Asp2476=
XM_011540045.1:c.7563C>T	XP_011538347.1:p.Asp2521=
XM_011540046.1:c.7023C>T	XP_011538348.1:p.Asp2341=
XM_011540047.1:c.6381C>T	XP_011538349.1:p.Asp2127=
XM_011540052.1:c.3891C>T	XP_011538354.1:p.Asp1297=
NM_022124.6:c.7368C>T MANE Select	NP_071407.4:p.Asp2456=