Canonical Allele Identifier: CA10628799

Gene: CDH23

Linked Data

• ClinVar Variation Id: 300402
• ClinVar RCV Id: RCV000321350 ; RCV000378275 ; RCV001452208 ; RCV004529494
• dbSNP Id: rs886047129
• gnomAD v4: 10-71566900-G-A
• MyVariant Identifiers: chr10:g.73326657G>A (hg19) ; chr10:g.71566900G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71566900G>A , CM000672.2:g.71566900G>A	GRCh38
NC_000010.10:g.73326657G>A , CM000672.1:g.73326657G>A	GRCh37
NC_000010.9:g.72996663G>A	NCBI36
NG_008835.1:g.174954G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.588G>A MANE Select	ENSP00000224721.9:p.Glu196=
ENST00000398809.9:c.588G>A	ENSP00000381789.5:p.Glu196=
ENST00000442677.4:c.588G>A	ENSP00000388894.3:p.Glu196=
ENST00000643732.1:n.364G>A
ENST00000646131.1:c.252G>A	ENSP00000495098.1:p.Glu84=
ENST00000224721.10:c.603G>A	ENSP00000224721.8:p.Glu201=
ENST00000299366.11:c.588G>A	ENSP00000299366.8:p.Glu196=
ENST00000398809.8:c.588G>A	ENSP00000381789.5:p.Glu196=
ENST00000398842.7:c.411G>A	ENSP00000381822.4:p.Glu137=
ENST00000461841.7:c.588G>A	ENSP00000473454.2:p.Glu196=
ENST00000616684.4:c.588G>A	ENSP00000482036.2:p.Glu196=
ENST00000622827.4:c.588G>A	ENSP00000483211.1:p.Glu196=
NM_001171930.1:c.588G>A	NP_001165401.1:p.Glu196=
NM_001171931.1:c.588G>A	NP_001165402.1:p.Glu196=
NM_001171932.1:c.588G>A	NP_001165403.1:p.Glu196=
NM_022124.5:c.588G>A	NP_071407.4:p.Glu196=
NM_052836.3:c.588G>A	NP_443068.1:p.Glu196=
XM_006717940.2:c.723G>A	XP_006718003.1:p.Glu241=
XM_006717942.2:c.723G>A	XP_006718005.1:p.Glu241=
XM_011540039.1:c.723G>A	XP_011538341.1:p.Glu241=
XM_011540040.1:c.723G>A	XP_011538342.1:p.Glu241=
XM_011540041.1:c.723G>A	XP_011538343.1:p.Glu241=
XM_011540042.1:c.723G>A	XP_011538344.1:p.Glu241=
XM_011540043.1:c.723G>A	XP_011538345.1:p.Glu241=
XM_011540044.1:c.588G>A	XP_011538346.1:p.Glu196=
XM_011540045.1:c.723G>A	XP_011538347.1:p.Glu241=
XM_011540046.1:c.183G>A	XP_011538348.1:p.Glu61=
XM_011540048.1:c.723G>A	XP_011538350.1:p.Glu241=
XM_011540049.1:c.723G>A	XP_011538351.1:p.Glu241=
XM_011540050.1:c.723G>A	XP_011538352.1:p.Glu241=
XM_011540051.1:c.723G>A	XP_011538353.1:p.Glu241=
XM_011540053.1:c.723G>A	XP_011538355.1:p.Glu241=
XM_011540054.1:c.723G>A	XP_011538356.1:p.Glu241=
XR_246128.2:n.162-1766C>T
XR_945796.1:n.966G>A
NM_001171930.2:c.588G>A	NP_001165401.1:p.Glu196=
NM_001171931.2:c.588G>A	NP_001165402.1:p.Glu196=
NM_022124.6:c.588G>A MANE Select	NP_071407.4:p.Glu196=
NM_052836.4:c.588G>A	NP_443068.1:p.Glu196=
NM_001171932.2:c.588G>A	NP_001165403.1:p.Glu196=