Canonical Allele Identifier: CA377154474

Gene: CDH23 C10orf105

Linked Data

• ClinVar Variation Id: 2680510
• ClinVar RCV Id: RCV003474539
• dbSNP Id: rs2132820119
• gnomAD v4: 10-71730523-C-T
• MyVariant Identifiers: chr10:g.73490280C>T (hg19) ; chr10:g.71730523C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71730523C>T , CM000672.2:g.71730523C>T	GRCh38
NC_000010.10:g.73490280C>T , CM000672.1:g.73490280C>T	GRCh37
NC_000010.9:g.73160286C>T	NCBI36
NG_008835.1:g.338577C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.3634C>T (CDH23) MANE Select	ENSP00000224721.9:p.Gln1212Ter
ENST00000398809.9:c.3631C>T (CDH23)	ENSP00000381789.5:p.Gln1211Ter
ENST00000224721.10:c.3649C>T (CDH23)	ENSP00000224721.8:p.Gln1217Ter
ENST00000398786.2:c.-6+7205G>A (C10orf105)	ENSP00000381766.3:n.-6+7205G>A
ENST00000398792.3:n.326C>T (CDH23)
ENST00000398809.8:c.3631C>T (CDH23)	ENSP00000381789.5:p.Gln1211Ter
ENST00000616684.4:c.3634C>T (CDH23)	ENSP00000482036.2:p.Gln1212Ter
ENST00000622827.4:c.3634C>T (CDH23)	ENSP00000483211.1:p.Gln1212Ter
NM_001168390.1:c.-6+7205G>A (C10orf105)	NP_001161862.1:n.-6+7205G>A
NM_001171930.1:c.3634C>T (CDH23)	NP_001165401.1:p.Gln1212Ter
NM_022124.5:c.3634C>T (CDH23)	NP_071407.4:p.Gln1212Ter
XM_006717940.2:c.3829C>T (CDH23)	XP_006718003.1:p.Gln1277Ter
XM_006717942.2:c.3763C>T (CDH23)	XP_006718005.1:p.Gln1255Ter
XM_011540039.1:c.3829C>T (CDH23)	XP_011538341.1:p.Gln1277Ter
XM_011540040.1:c.3823C>T (CDH23)	XP_011538342.1:p.Gln1275Ter
XM_011540041.1:c.3769C>T (CDH23)	XP_011538343.1:p.Gln1257Ter
XM_011540042.1:c.3829C>T (CDH23)	XP_011538344.1:p.Gln1277Ter
XM_011540043.1:c.3829C>T (CDH23)	XP_011538345.1:p.Gln1277Ter
XM_011540044.1:c.3694C>T (CDH23)	XP_011538346.1:p.Gln1232Ter
XM_011540045.1:c.3829C>T (CDH23)	XP_011538347.1:p.Gln1277Ter
XM_011540046.1:c.3289C>T (CDH23)	XP_011538348.1:p.Gln1097Ter
XM_011540047.1:c.2647C>T (CDH23)	XP_011538349.1:p.Gln883Ter
XM_011540048.1:c.3829C>T (CDH23)	XP_011538350.1:p.Gln1277Ter
XM_011540049.1:c.3829C>T (CDH23)	XP_011538351.1:p.Gln1277Ter
XM_011540050.1:c.3829C>T (CDH23)	XP_011538352.1:p.Gln1277Ter
XM_011540051.1:c.3829C>T (CDH23)	XP_011538353.1:p.Gln1277Ter
XM_011540052.1:c.157C>T (CDH23)	XP_011538354.1:p.Gln53Ter
XM_011540053.1:c.3829C>T (CDH23)	XP_011538355.1:p.Gln1277Ter
XR_945796.1:n.4072C>T (CDH23)
NM_001168390.2:c.-6+7205G>A (C10orf105)	NP_001161862.1:n.-6+7205G>A
NM_001171930.2:c.3634C>T (CDH23)	NP_001165401.1:p.Gln1212Ter
NM_022124.6:c.3634C>T (CDH23) MANE Select	NP_071407.4:p.Gln1212Ter