Canonical Allele Identifier: CA2580081859

Gene: CDH23

Linked Data

• ClinVar Variation Id: 2026967
• ClinVar RCV Id: RCV002871630

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71793267G>A , CM000672.2:g.71793267G>A	GRCh38
NC_000010.10:g.73553024G>A , CM000672.1:g.73553024G>A	GRCh37
NC_000010.9:g.73223030G>A	NCBI36
NG_008835.1:g.401321G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.6339G>A MANE Select	ENSP00000224721.9:p.Gln2113=
ENST00000224721.10:c.6354G>A	ENSP00000224721.8:p.Gln2118=
ENST00000622827.4:c.6339G>A	ENSP00000483211.1:p.Gln2113=
NM_022124.5:c.6339G>A	NP_071407.4:p.Gln2113=
XM_006717940.2:c.6534G>A	XP_006718003.1:p.Gln2178=
XM_006717942.2:c.6468G>A	XP_006718005.1:p.Gln2156=
XM_011540039.1:c.6531G>A	XP_011538341.1:p.Gln2177=
XM_011540040.1:c.6528G>A	XP_011538342.1:p.Gln2176=
XM_011540041.1:c.6474G>A	XP_011538343.1:p.Gln2158=
XM_011540042.1:c.6534G>A	XP_011538344.1:p.Gln2178=
XM_011540043.1:c.6534G>A	XP_011538345.1:p.Gln2178=
XM_011540044.1:c.6399G>A	XP_011538346.1:p.Gln2133=
XM_011540045.1:c.6534G>A	XP_011538347.1:p.Gln2178=
XM_011540046.1:c.5994G>A	XP_011538348.1:p.Gln1998=
XM_011540047.1:c.5352G>A	XP_011538349.1:p.Gln1784=
XM_011540048.1:c.6534G>A	XP_011538350.1:p.Gln2178=
XM_011540049.1:c.6534G>A	XP_011538351.1:p.Gln2178=
XM_011540050.1:c.6534G>A	XP_011538352.1:p.Gln2178=
XM_011540051.1:c.6534G>A	XP_011538353.1:p.Gln2178=
XM_011540052.1:c.2862G>A	XP_011538354.1:p.Gln954=
XR_945796.1:n.6777G>A
NM_022124.6:c.6339G>A MANE Select	NP_071407.4:p.Gln2113=