Canonical Allele Identifier: CA470062370

Gene: CDH23

Linked Data

• ClinVar Variation Id: 1150566
• ClinVar RCV Id: RCV001491207
• dbSNP Id: rs1473612729
• gnomAD v3: 10-71709123-C-T
• gnomAD v4: 10-71709123-C-T
• MyVariant Identifiers: chr10:g.73468880C>T (hg19) ; chr10:g.71709123C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71709123C>T , CM000672.2:g.71709123C>T	GRCh38
NC_000010.10:g.73468880C>T , CM000672.1:g.73468880C>T	GRCh37
NC_000010.9:g.73138886C>T	NCBI36
NG_008835.1:g.317177C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.3132C>T MANE Select	ENSP00000224721.9:p.Ser1044=
ENST00000398809.9:c.3132C>T	ENSP00000381789.5:p.Ser1044=
ENST00000442677.4:c.3132C>T	ENSP00000388894.3:p.Ser1044=
ENST00000466757.8:c.2563C>T
ENST00000224721.10:c.3147C>T	ENSP00000224721.8:p.Ser1049=
ENST00000398809.8:c.3132C>T	ENSP00000381789.5:p.Ser1044=
ENST00000442677.3:c.1907C>T
ENST00000466757.7:c.2563C>T
ENST00000616684.4:c.3132C>T	ENSP00000482036.2:p.Ser1044=
ENST00000622827.4:c.3132C>T	ENSP00000483211.1:p.Ser1044=
NM_001171930.1:c.3132C>T	NP_001165401.1:p.Ser1044=
NM_022124.5:c.3132C>T	NP_071407.4:p.Ser1044=
XM_006717940.2:c.3327C>T	XP_006718003.1:p.Ser1109=
XM_006717942.2:c.3261C>T	XP_006718005.1:p.Ser1087=
XM_011540039.1:c.3327C>T	XP_011538341.1:p.Ser1109=
XM_011540040.1:c.3321C>T	XP_011538342.1:p.Ser1107=
XM_011540041.1:c.3267C>T	XP_011538343.1:p.Ser1089=
XM_011540042.1:c.3327C>T	XP_011538344.1:p.Ser1109=
XM_011540043.1:c.3327C>T	XP_011538345.1:p.Ser1109=
XM_011540044.1:c.3192C>T	XP_011538346.1:p.Ser1064=
XM_011540045.1:c.3327C>T	XP_011538347.1:p.Ser1109=
XM_011540046.1:c.2787C>T	XP_011538348.1:p.Ser929=
XM_011540047.1:c.2145C>T	XP_011538349.1:p.Ser715=
XM_011540048.1:c.3327C>T	XP_011538350.1:p.Ser1109=
XM_011540049.1:c.3327C>T	XP_011538351.1:p.Ser1109=
XM_011540050.1:c.3327C>T	XP_011538352.1:p.Ser1109=
XM_011540051.1:c.3327C>T	XP_011538353.1:p.Ser1109=
XM_011540053.1:c.3327C>T	XP_011538355.1:p.Ser1109=
XR_945796.1:n.3570C>T
NM_001171930.2:c.3132C>T	NP_001165401.1:p.Ser1044=
NM_022124.6:c.3132C>T MANE Select	NP_071407.4:p.Ser1044=