Canonical Allele Identifier: CA2697558463

Gene: CDH23

Linked Data

• ClinVar Variation Id: 2768313
• ClinVar RCV Id: RCV003576312

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71793429C>A , CM000672.2:g.71793429C>A	GRCh38
NC_000010.10:g.73553186C>A , CM000672.1:g.73553186C>A	GRCh37
NC_000010.9:g.73223192C>A	NCBI36
NG_008835.1:g.401483C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.6501C>A MANE Select	ENSP00000224721.9:p.Ile2167=
ENST00000224721.10:c.6516C>A	ENSP00000224721.8:p.Ile2172=
ENST00000622827.4:c.6501C>A	ENSP00000483211.1:p.Ile2167=
NM_022124.5:c.6501C>A	NP_071407.4:p.Ile2167=
XM_006717940.2:c.6696C>A	XP_006718003.1:p.Ile2232=
XM_006717942.2:c.6630C>A	XP_006718005.1:p.Ile2210=
XM_011540039.1:c.6693C>A	XP_011538341.1:p.Ile2231=
XM_011540040.1:c.6690C>A	XP_011538342.1:p.Ile2230=
XM_011540041.1:c.6636C>A	XP_011538343.1:p.Ile2212=
XM_011540042.1:c.6606C>A	XP_011538344.1:p.Ile2202=
XM_011540043.1:c.6696C>A	XP_011538345.1:p.Ile2232=
XM_011540044.1:c.6561C>A	XP_011538346.1:p.Ile2187=
XM_011540045.1:c.6696C>A	XP_011538347.1:p.Ile2232=
XM_011540046.1:c.6156C>A	XP_011538348.1:p.Ile2052=
XM_011540047.1:c.5514C>A	XP_011538349.1:p.Ile1838=
XM_011540048.1:c.6696C>A	XP_011538350.1:p.Ile2232=
XM_011540049.1:c.6696C>A	XP_011538351.1:p.Ile2232=
XM_011540050.1:c.6696C>A	XP_011538352.1:p.Ile2232=
XM_011540051.1:c.6696C>A	XP_011538353.1:p.Ile2232=
XM_011540052.1:c.3024C>A	XP_011538354.1:p.Ile1008=
XR_945796.1:n.6939C>A
NM_022124.6:c.6501C>A MANE Select	NP_071407.4:p.Ile2167=