Canonical Allele Identifier: CA470061977

Gene: CDH23

Linked Data

• ClinVar Variation Id: 1629063
• ClinVar RCV Id: RCV002116453
• dbSNP Id: rs1841462214
• gnomAD v3: 10-71798400-G-A
• gnomAD v4: 10-71798400-G-A
• MyVariant Identifiers: chr10:g.73558157G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71798400G>A , CM000672.2:g.71798400G>A	GRCh38
NC_000010.10:g.73558157G>A , CM000672.1:g.73558157G>A	GRCh37
NC_000010.9:g.73228163G>A	NCBI36
NG_008835.1:g.406454G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.6876G>A MANE Select	ENSP00000224721.9:p.Gln2292=
ENST00000642965.1:c.809G>A	ENSP00000495222.1:n.809G>A
ENST00000647092.1:c.473G>A	ENSP00000495176.1:n.473G>A
ENST00000224721.10:c.6891G>A	ENSP00000224721.8:p.Gln2297=
ENST00000398788.4:c.156G>A	ENSP00000381768.3:p.Gln52=
ENST00000475158.1:n.412G>A
ENST00000619887.4:c.156G>A	ENSP00000478374.1:p.Gln52=
ENST00000622827.4:c.6876G>A	ENSP00000483211.1:p.Gln2292=
NM_001171933.1:c.156G>A	NP_001165404.1:p.Gln52=
NM_001171934.1:c.156G>A	NP_001165405.1:p.Gln52=
NM_022124.5:c.6876G>A	NP_071407.4:p.Gln2292=
XM_006717940.2:c.7071G>A	XP_006718003.1:p.Gln2357=
XM_006717942.2:c.7005G>A	XP_006718005.1:p.Gln2335=
XM_011540039.1:c.7068G>A	XP_011538341.1:p.Gln2356=
XM_011540040.1:c.7065G>A	XP_011538342.1:p.Gln2355=
XM_011540041.1:c.7011G>A	XP_011538343.1:p.Gln2337=
XM_011540042.1:c.6981G>A	XP_011538344.1:p.Gln2327=
XM_011540043.1:c.7071G>A	XP_011538345.1:p.Gln2357=
XM_011540044.1:c.6936G>A	XP_011538346.1:p.Gln2312=
XM_011540045.1:c.7071G>A	XP_011538347.1:p.Gln2357=
XM_011540046.1:c.6531G>A	XP_011538348.1:p.Gln2177=
XM_011540047.1:c.5889G>A	XP_011538349.1:p.Gln1963=
XM_011540052.1:c.3399G>A	XP_011538354.1:p.Gln1133=
NM_022124.6:c.6876G>A MANE Select	NP_071407.4:p.Gln2292=