Canonical Allele Identifier: CA10635684

Gene: CDH23

Linked Data

• ClinVar Variation Id: 300439
• ClinVar RCV Id: RCV000364252 ; RCV000405794 ; RCV001427255 ; RCV004529514
• dbSNP Id: rs886047139
• MyVariant Identifiers: chr10:g.73537575C>T (hg19) ; chr10:g.71777818C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71777818C>T , CM000672.2:g.71777818C>T	GRCh38
NC_000010.10:g.73537575C>T , CM000672.1:g.73537575C>T	GRCh37
NC_000010.9:g.73207581C>T	NCBI36
NG_008835.1:g.385872C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.4984C>T MANE Select	ENSP00000224721.9:p.Leu1662=
ENST00000224721.10:c.4999C>T	ENSP00000224721.8:p.Leu1667=
ENST00000622827.4:c.4984C>T	ENSP00000483211.1:p.Leu1662=
NM_022124.5:c.4984C>T	NP_071407.4:p.Leu1662=
XM_006717940.2:c.5179C>T	XP_006718003.1:p.Leu1727=
XM_006717942.2:c.5113C>T	XP_006718005.1:p.Leu1705=
XM_011540039.1:c.5176C>T	XP_011538341.1:p.Leu1726=
XM_011540040.1:c.5173C>T	XP_011538342.1:p.Leu1725=
XM_011540041.1:c.5119C>T	XP_011538343.1:p.Leu1707=
XM_011540042.1:c.5179C>T	XP_011538344.1:p.Leu1727=
XM_011540043.1:c.5179C>T	XP_011538345.1:p.Leu1727=
XM_011540044.1:c.5044C>T	XP_011538346.1:p.Leu1682=
XM_011540045.1:c.5179C>T	XP_011538347.1:p.Leu1727=
XM_011540046.1:c.4639C>T	XP_011538348.1:p.Leu1547=
XM_011540047.1:c.3997C>T	XP_011538349.1:p.Leu1333=
XM_011540048.1:c.5179C>T	XP_011538350.1:p.Leu1727=
XM_011540049.1:c.5179C>T	XP_011538351.1:p.Leu1727=
XM_011540050.1:c.5179C>T	XP_011538352.1:p.Leu1727=
XM_011540051.1:c.5179C>T	XP_011538353.1:p.Leu1727=
XM_011540052.1:c.1507C>T	XP_011538354.1:p.Leu503=
XM_011540053.1:c.5179C>T	XP_011538355.1:p.Leu1727=
XR_945796.1:n.5422C>T
NM_022124.6:c.4984C>T MANE Select	NP_071407.4:p.Leu1662=