Canonical Allele Identifier: CA2499220348

Gene: CDH23

Linked Data

• ClinVar Variation Id: 1140132
• ClinVar RCV Id: RCV001477094
• dbSNP Id: rs1306728898

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71793247C>A , CM000672.2:g.71793247C>A	GRCh38
NC_000010.10:g.73553004C>A , CM000672.1:g.73553004C>A	GRCh37
NC_000010.9:g.73223010C>A	NCBI36
NG_008835.1:g.401301C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.6319C>A MANE Select	ENSP00000224721.9:p.Arg2107=
ENST00000224721.10:c.6334C>A	ENSP00000224721.8:p.Arg2112=
ENST00000622827.4:c.6319C>A	ENSP00000483211.1:p.Arg2107=
NM_022124.5:c.6319C>A	NP_071407.4:p.Arg2107=
XM_006717940.2:c.6514C>A	XP_006718003.1:p.Arg2172=
XM_006717942.2:c.6448C>A	XP_006718005.1:p.Arg2150=
XM_011540039.1:c.6511C>A	XP_011538341.1:p.Arg2171=
XM_011540040.1:c.6508C>A	XP_011538342.1:p.Arg2170=
XM_011540041.1:c.6454C>A	XP_011538343.1:p.Arg2152=
XM_011540042.1:c.6514C>A	XP_011538344.1:p.Arg2172=
XM_011540043.1:c.6514C>A	XP_011538345.1:p.Arg2172=
XM_011540044.1:c.6379C>A	XP_011538346.1:p.Arg2127=
XM_011540045.1:c.6514C>A	XP_011538347.1:p.Arg2172=
XM_011540046.1:c.5974C>A	XP_011538348.1:p.Arg1992=
XM_011540047.1:c.5332C>A	XP_011538349.1:p.Arg1778=
XM_011540048.1:c.6514C>A	XP_011538350.1:p.Arg2172=
XM_011540049.1:c.6514C>A	XP_011538351.1:p.Arg2172=
XM_011540050.1:c.6514C>A	XP_011538352.1:p.Arg2172=
XM_011540051.1:c.6514C>A	XP_011538353.1:p.Arg2172=
XM_011540052.1:c.2842C>A	XP_011538354.1:p.Arg948=
XR_945796.1:n.6757C>A
NM_022124.6:c.6319C>A MANE Select	NP_071407.4:p.Arg2107=