Canonical Allele Identifier: CA5545817

Gene: CDH23

Linked Data

• ClinVar Variation Id: 2149310
• ClinVar RCV Id: RCV003065417
• dbSNP Id: rs765660956
• ExAC: 10:73544760 A / G
• gnomAD v2: 10-73544760-A-G
• gnomAD v4: 10-71785003-A-G
• MyVariant Identifiers: chr10:g.73544760A>G (hg19) ; chr10:g.71785003A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71785003A>G , CM000672.2:g.71785003A>G	GRCh38
NC_000010.10:g.73544760A>G , CM000672.1:g.73544760A>G	GRCh37
NC_000010.9:g.73214766A>G	NCBI36
NG_008835.1:g.393057A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.5615A>G MANE Select	ENSP00000224721.9:p.His1872Arg
ENST00000224721.10:c.5630A>G	ENSP00000224721.8:p.His1877Arg
ENST00000622827.4:c.5615A>G	ENSP00000483211.1:p.His1872Arg
NM_022124.5:c.5615A>G	NP_071407.4:p.His1872Arg
XM_006717940.2:c.5810A>G	XP_006718003.1:p.His1937Arg
XM_006717942.2:c.5744A>G	XP_006718005.1:p.His1915Arg
XM_011540039.1:c.5807A>G	XP_011538341.1:p.His1936Arg
XM_011540040.1:c.5804A>G	XP_011538342.1:p.His1935Arg
XM_011540041.1:c.5750A>G	XP_011538343.1:p.His1917Arg
XM_011540042.1:c.5810A>G	XP_011538344.1:p.His1937Arg
XM_011540043.1:c.5810A>G	XP_011538345.1:p.His1937Arg
XM_011540044.1:c.5675A>G	XP_011538346.1:p.His1892Arg
XM_011540045.1:c.5810A>G	XP_011538347.1:p.His1937Arg
XM_011540046.1:c.5270A>G	XP_011538348.1:p.His1757Arg
XM_011540047.1:c.4628A>G	XP_011538349.1:p.His1543Arg
XM_011540048.1:c.5810A>G	XP_011538350.1:p.His1937Arg
XM_011540049.1:c.5810A>G	XP_011538351.1:p.His1937Arg
XM_011540050.1:c.5810A>G	XP_011538352.1:p.His1937Arg
XM_011540051.1:c.5810A>G	XP_011538353.1:p.His1937Arg
XM_011540052.1:c.2138A>G	XP_011538354.1:p.His713Arg
XM_011540053.1:c.5810A>G	XP_011538355.1:p.His1937Arg
XR_945796.1:n.6053A>G
NM_022124.6:c.5615A>G MANE Select	NP_071407.4:p.His1872Arg