Canonical Allele Identifier: CA377162326

Gene: CDH23

Linked Data

• ClinVar Variation Id: 2490187
• ClinVar RCV Id: RCV003206144
• dbSNP Id: rs1385516067
• gnomAD v2: 10-73565949-G-A
• gnomAD v3: 10-71806192-G-A
• gnomAD v4: 10-71806192-G-A
• MyVariant Identifiers: chr10:g.73565949G>A (hg19) ; chr10:g.71806192G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71806192G>A , CM000672.2:g.71806192G>A	GRCh38
NC_000010.10:g.73565949G>A , CM000672.1:g.73565949G>A	GRCh37
NC_000010.9:g.73235955G>A	NCBI36
NG_008835.1:g.414246G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.8089G>A MANE Select	ENSP00000224721.9:p.Gly2697Ser
ENST00000642965.1:c.2022G>A	ENSP00000495222.1:n.2022G>A
ENST00000647092.1:c.1686G>A	ENSP00000495176.1:n.1686G>A
ENST00000224721.10:c.8104G>A	ENSP00000224721.8:p.Gly2702Ser
ENST00000398788.4:c.1369G>A	ENSP00000381768.3:p.Gly457Ser
ENST00000475158.1:n.1625G>A
ENST00000619887.4:c.1369G>A	ENSP00000478374.1:p.Gly457Ser
ENST00000622827.4:c.8089G>A	ENSP00000483211.1:p.Gly2697Ser
NM_001171933.1:c.1369G>A	NP_001165404.1:p.Gly457Ser
NM_001171934.1:c.1369G>A	NP_001165405.1:p.Gly457Ser
NM_022124.5:c.8089G>A	NP_071407.4:p.Gly2697Ser
XM_006717940.2:c.8284G>A	XP_006718003.1:p.Gly2762Ser
XM_006717942.2:c.8218G>A	XP_006718005.1:p.Gly2740Ser
XM_011540039.1:c.8281G>A	XP_011538341.1:p.Gly2761Ser
XM_011540040.1:c.8278G>A	XP_011538342.1:p.Gly2760Ser
XM_011540041.1:c.8224G>A	XP_011538343.1:p.Gly2742Ser
XM_011540042.1:c.8194G>A	XP_011538344.1:p.Gly2732Ser
XM_011540043.1:c.8284G>A	XP_011538345.1:p.Gly2762Ser
XM_011540044.1:c.8149G>A	XP_011538346.1:p.Gly2717Ser
XM_011540045.1:c.8284G>A	XP_011538347.1:p.Gly2762Ser
XM_011540046.1:c.7744G>A	XP_011538348.1:p.Gly2582Ser
XM_011540047.1:c.7102G>A	XP_011538349.1:p.Gly2368Ser
XM_011540052.1:c.4612G>A	XP_011538354.1:p.Gly1538Ser
NM_022124.6:c.8089G>A MANE Select	NP_071407.4:p.Gly2697Ser