Canonical Allele Identifier: CA228930

Gene: CDH23

Linked Data

• ClinVar Variation Id: 100590
• ClinVar RCV Id: RCV000086978
• dbSNP Id: rs137853912
• ExAC: 10:73567375 A / G
• gnomAD v2: 10-73567375-A-G
• gnomAD v3: 10-71807618-A-G
• gnomAD v4: 10-71807618-A-G
• MyVariant Identifiers: chr10:g.73567375A>G (hg19) ; chr10:g.71807618A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71807618A>G , CM000672.2:g.71807618A>G	GRCh38
NC_000010.10:g.73567375A>G , CM000672.1:g.73567375A>G	GRCh37
NC_000010.9:g.73237381A>G	NCBI36
NG_008835.1:g.415672A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.8411A>G MANE Select	ENSP00000224721.9:p.Lys2804Arg
ENST00000642965.1:c.2344A>G	ENSP00000495222.1:n.2344A>G
ENST00000647092.1:c.2008A>G	ENSP00000495176.1:n.2008A>G
ENST00000224721.10:c.8426A>G	ENSP00000224721.8:p.Lys2809Arg
ENST00000398788.4:c.1691A>G	ENSP00000381768.3:p.Lys564Arg
ENST00000475158.1:n.1947A>G
ENST00000619887.4:c.1691A>G	ENSP00000478374.1:p.Lys564Arg
ENST00000622827.4:c.8411A>G	ENSP00000483211.1:p.Lys2804Arg
NM_001171933.1:c.1691A>G	NP_001165404.1:p.Lys564Arg
NM_001171934.1:c.1691A>G	NP_001165405.1:p.Lys564Arg
NM_022124.5:c.8411A>G	NP_071407.4:p.Lys2804Arg
XM_006717940.2:c.8606A>G	XP_006718003.1:p.Lys2869Arg
XM_006717942.2:c.8540A>G	XP_006718005.1:p.Lys2847Arg
XM_011540039.1:c.8603A>G	XP_011538341.1:p.Lys2868Arg
XM_011540040.1:c.8600A>G	XP_011538342.1:p.Lys2867Arg
XM_011540041.1:c.8546A>G	XP_011538343.1:p.Lys2849Arg
XM_011540042.1:c.8516A>G	XP_011538344.1:p.Lys2839Arg
XM_011540043.1:c.8606A>G	XP_011538345.1:p.Lys2869Arg
XM_011540044.1:c.8471A>G	XP_011538346.1:p.Lys2824Arg
XM_011540045.1:c.8606A>G	XP_011538347.1:p.Lys2869Arg
XM_011540046.1:c.8066A>G	XP_011538348.1:p.Lys2689Arg
XM_011540047.1:c.7424A>G	XP_011538349.1:p.Lys2475Arg
XM_011540052.1:c.4934A>G	XP_011538354.1:p.Lys1645Arg
NM_022124.6:c.8411A>G MANE Select	NP_071407.4:p.Lys2804Arg