Canonical Allele Identifier: CA5544792

Gene: CDH23 C10orf105

Linked Data

• ClinVar Variation Id: 2175457
• ClinVar RCV Id: RCV002579238 ; RCV003269463
• dbSNP Id: rs368825395
• ExAC: 10:73490279 G / T
• gnomAD v2: 10-73490279-G-T
• gnomAD v3: 10-71730522-G-T
• gnomAD v4: 10-71730522-G-T
• MyVariant Identifiers: chr10:g.73490279G>T (hg19) ; chr10:g.71730522G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71730522G>T , CM000672.2:g.71730522G>T	GRCh38
NC_000010.10:g.73490279G>T , CM000672.1:g.73490279G>T	GRCh37
NC_000010.9:g.73160285G>T	NCBI36
NG_008835.1:g.338576G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.3633G>T (CDH23) MANE Select	ENSP00000224721.9:p.Gln1211His
ENST00000398809.9:c.3630G>T (CDH23)	ENSP00000381789.5:p.Gln1210His
ENST00000224721.10:c.3648G>T (CDH23)	ENSP00000224721.8:p.Gln1216His
ENST00000398786.2:c.-6+7206C>A (C10orf105)	ENSP00000381766.3:n.-6+7206C>A
ENST00000398792.3:n.325G>T (CDH23)
ENST00000398809.8:c.3630G>T (CDH23)	ENSP00000381789.5:p.Gln1210His
ENST00000616684.4:c.3633G>T (CDH23)	ENSP00000482036.2:p.Gln1211His
ENST00000622827.4:c.3633G>T (CDH23)	ENSP00000483211.1:p.Gln1211His
NM_001168390.1:c.-6+7206C>A (C10orf105)	NP_001161862.1:n.-6+7206C>A
NM_001171930.1:c.3633G>T (CDH23)	NP_001165401.1:p.Gln1211His
NM_022124.5:c.3633G>T (CDH23)	NP_071407.4:p.Gln1211His
XM_006717940.2:c.3828G>T (CDH23)	XP_006718003.1:p.Gln1276His
XM_006717942.2:c.3762G>T (CDH23)	XP_006718005.1:p.Gln1254His
XM_011540039.1:c.3828G>T (CDH23)	XP_011538341.1:p.Gln1276His
XM_011540040.1:c.3822G>T (CDH23)	XP_011538342.1:p.Gln1274His
XM_011540041.1:c.3768G>T (CDH23)	XP_011538343.1:p.Gln1256His
XM_011540042.1:c.3828G>T (CDH23)	XP_011538344.1:p.Gln1276His
XM_011540043.1:c.3828G>T (CDH23)	XP_011538345.1:p.Gln1276His
XM_011540044.1:c.3693G>T (CDH23)	XP_011538346.1:p.Gln1231His
XM_011540045.1:c.3828G>T (CDH23)	XP_011538347.1:p.Gln1276His
XM_011540046.1:c.3288G>T (CDH23)	XP_011538348.1:p.Gln1096His
XM_011540047.1:c.2646G>T (CDH23)	XP_011538349.1:p.Gln882His
XM_011540048.1:c.3828G>T (CDH23)	XP_011538350.1:p.Gln1276His
XM_011540049.1:c.3828G>T (CDH23)	XP_011538351.1:p.Gln1276His
XM_011540050.1:c.3828G>T (CDH23)	XP_011538352.1:p.Gln1276His
XM_011540051.1:c.3828G>T (CDH23)	XP_011538353.1:p.Gln1276His
XM_011540052.1:c.156G>T (CDH23)	XP_011538354.1:p.Gln52His
XM_011540053.1:c.3828G>T (CDH23)	XP_011538355.1:p.Gln1276His
XR_945796.1:n.4071G>T (CDH23)
NM_001168390.2:c.-6+7206C>A (C10orf105)	NP_001161862.1:n.-6+7206C>A
NM_001171930.2:c.3633G>T (CDH23)	NP_001165401.1:p.Gln1211His
NM_022124.6:c.3633G>T (CDH23) MANE Select	NP_071407.4:p.Gln1211His