Canonical Allele Identifier: CA377154440

Gene: CDH23

Linked Data

• ClinVar Variation Id: 1472044
• ClinVar RCV Id: RCV002002796
• dbSNP Id: rs375329233
• gnomAD v4: 10-71793271-C-A
• COSMIC: COSM1247837
• MyVariant Identifiers: chr10:g.73553028C>A (hg19) ; chr10:g.71793271C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71793271C>A , CM000672.2:g.71793271C>A	GRCh38
NC_000010.10:g.73553028C>A , CM000672.1:g.73553028C>A	GRCh37
NC_000010.9:g.73223034C>A	NCBI36
NG_008835.1:g.401325C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.6343C>A MANE Select	ENSP00000224721.9:p.Arg2115Ser
ENST00000224721.10:c.6358C>A	ENSP00000224721.8:p.Arg2120Ser
ENST00000622827.4:c.6343C>A	ENSP00000483211.1:p.Arg2115Ser
NM_022124.5:c.6343C>A	NP_071407.4:p.Arg2115Ser
XM_006717940.2:c.6538C>A	XP_006718003.1:p.Arg2180Ser
XM_006717942.2:c.6472C>A	XP_006718005.1:p.Arg2158Ser
XM_011540039.1:c.6535C>A	XP_011538341.1:p.Arg2179Ser
XM_011540040.1:c.6532C>A	XP_011538342.1:p.Arg2178Ser
XM_011540041.1:c.6478C>A	XP_011538343.1:p.Arg2160Ser
XM_011540042.1:c.6538C>A	XP_011538344.1:p.Arg2180Ser
XM_011540043.1:c.6538C>A	XP_011538345.1:p.Arg2180Ser
XM_011540044.1:c.6403C>A	XP_011538346.1:p.Arg2135Ser
XM_011540045.1:c.6538C>A	XP_011538347.1:p.Arg2180Ser
XM_011540046.1:c.5998C>A	XP_011538348.1:p.Arg2000Ser
XM_011540047.1:c.5356C>A	XP_011538349.1:p.Arg1786Ser
XM_011540048.1:c.6538C>A	XP_011538350.1:p.Arg2180Ser
XM_011540049.1:c.6538C>A	XP_011538351.1:p.Arg2180Ser
XM_011540050.1:c.6538C>A	XP_011538352.1:p.Arg2180Ser
XM_011540051.1:c.6538C>A	XP_011538353.1:p.Arg2180Ser
XM_011540052.1:c.2866C>A	XP_011538354.1:p.Arg956Ser
XR_945796.1:n.6781C>A
NM_022124.6:c.6343C>A MANE Select	NP_071407.4:p.Arg2115Ser