Canonical Allele Identifier: CA5544492

Gene: CDH23

Linked Data

• ClinVar Variation Id: 1046249
• ClinVar RCV Id: RCV001350786 ; RCV001831162
• dbSNP Id: rs747839724
• ExAC: 10:73468891 G / A
• gnomAD v2: 10-73468891-G-A
• gnomAD v3: 10-71709134-G-A
• gnomAD v4: 10-71709134-G-A
• COSMIC: COSM2161028 ; COSM4180328
• MyVariant Identifiers: chr10:g.73468891G>A (hg19) ; chr10:g.71709134G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71709134G>A , CM000672.2:g.71709134G>A	GRCh38
NC_000010.10:g.73468891G>A , CM000672.1:g.73468891G>A	GRCh37
NC_000010.9:g.73138897G>A	NCBI36
NG_008835.1:g.317188G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.3143G>A MANE Select	ENSP00000224721.9:p.Arg1048His
ENST00000398809.9:c.3143G>A	ENSP00000381789.5:p.Arg1048His
ENST00000442677.4:c.3143G>A	ENSP00000388894.3:p.Arg1048His
ENST00000466757.8:c.2574G>A
ENST00000224721.10:c.3158G>A	ENSP00000224721.8:p.Arg1053His
ENST00000398809.8:c.3143G>A	ENSP00000381789.5:p.Arg1048His
ENST00000442677.3:c.1918G>A
ENST00000466757.7:c.2574G>A
ENST00000616684.4:c.3143G>A	ENSP00000482036.2:p.Arg1048His
ENST00000622827.4:c.3143G>A	ENSP00000483211.1:p.Arg1048His
NM_001171930.1:c.3143G>A	NP_001165401.1:p.Arg1048His
NM_022124.5:c.3143G>A	NP_071407.4:p.Arg1048His
XM_006717940.2:c.3338G>A	XP_006718003.1:p.Arg1113His
XM_006717942.2:c.3272G>A	XP_006718005.1:p.Arg1091His
XM_011540039.1:c.3338G>A	XP_011538341.1:p.Arg1113His
XM_011540040.1:c.3332G>A	XP_011538342.1:p.Arg1111His
XM_011540041.1:c.3278G>A	XP_011538343.1:p.Arg1093His
XM_011540042.1:c.3338G>A	XP_011538344.1:p.Arg1113His
XM_011540043.1:c.3338G>A	XP_011538345.1:p.Arg1113His
XM_011540044.1:c.3203G>A	XP_011538346.1:p.Arg1068His
XM_011540045.1:c.3338G>A	XP_011538347.1:p.Arg1113His
XM_011540046.1:c.2798G>A	XP_011538348.1:p.Arg933His
XM_011540047.1:c.2156G>A	XP_011538349.1:p.Arg719His
XM_011540048.1:c.3338G>A	XP_011538350.1:p.Arg1113His
XM_011540049.1:c.3338G>A	XP_011538351.1:p.Arg1113His
XM_011540050.1:c.3338G>A	XP_011538352.1:p.Arg1113His
XM_011540051.1:c.3338G>A	XP_011538353.1:p.Arg1113His
XM_011540053.1:c.3338G>A	XP_011538355.1:p.Arg1113His
XR_945796.1:n.3581G>A
NM_001171930.2:c.3143G>A	NP_001165401.1:p.Arg1048His
NM_022124.6:c.3143G>A MANE Select	NP_071407.4:p.Arg1048His