Canonical Allele Identifier: CA137507

Gene: CDH23

Linked Data

• ClinVar Variation Id: 45992
• ClinVar RCV Id: RCV000039227 ; RCV000271728 ; RCV000325842 ; RCV000905205 ; RCV001275564 ; RCV004528194
• dbSNP Id: rs115113440
• ExAC: 10:73545428 G / A
• gnomAD v2: 10-73545428-G-A
• gnomAD v3: 10-71785671-G-A
• gnomAD v4: 10-71785671-G-A
• MyVariant Identifiers: chr10:g.73545428G>A (hg19) ; chr10:g.71785671G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71785671G>A , CM000672.2:g.71785671G>A	GRCh38
NC_000010.10:g.73545428G>A , CM000672.1:g.73545428G>A	GRCh37
NC_000010.9:g.73215434G>A	NCBI36
NG_008835.1:g.393725G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.5753G>A MANE Select	ENSP00000224721.9:p.Arg1918Gln
ENST00000224721.10:c.5768G>A	ENSP00000224721.8:p.Arg1923Gln
ENST00000622827.4:c.5753G>A	ENSP00000483211.1:p.Arg1918Gln
NM_022124.5:c.5753G>A	NP_071407.4:p.Arg1918Gln
XM_006717940.2:c.5948G>A	XP_006718003.1:p.Arg1983Gln
XM_006717942.2:c.5882G>A	XP_006718005.1:p.Arg1961Gln
XM_011540039.1:c.5945G>A	XP_011538341.1:p.Arg1982Gln
XM_011540040.1:c.5942G>A	XP_011538342.1:p.Arg1981Gln
XM_011540041.1:c.5888G>A	XP_011538343.1:p.Arg1963Gln
XM_011540042.1:c.5948G>A	XP_011538344.1:p.Arg1983Gln
XM_011540043.1:c.5948G>A	XP_011538345.1:p.Arg1983Gln
XM_011540044.1:c.5813G>A	XP_011538346.1:p.Arg1938Gln
XM_011540045.1:c.5948G>A	XP_011538347.1:p.Arg1983Gln
XM_011540046.1:c.5408G>A	XP_011538348.1:p.Arg1803Gln
XM_011540047.1:c.4766G>A	XP_011538349.1:p.Arg1589Gln
XM_011540048.1:c.5948G>A	XP_011538350.1:p.Arg1983Gln
XM_011540049.1:c.5948G>A	XP_011538351.1:p.Arg1983Gln
XM_011540050.1:c.5948G>A	XP_011538352.1:p.Arg1983Gln
XM_011540051.1:c.5948G>A	XP_011538353.1:p.Arg1983Gln
XM_011540052.1:c.2276G>A	XP_011538354.1:p.Arg759Gln
XM_011540053.1:c.5948G>A	XP_011538355.1:p.Arg1983Gln
XR_945796.1:n.6191G>A
NM_022124.6:c.5753G>A MANE Select	NP_071407.4:p.Arg1918Gln