Canonical Allele Identifier: CA209457521

Gene: CDH23

Linked Data

• ClinVar Variation Id: 1656103
• ClinVar RCV Id: RCV002161552
• dbSNP Id: rs560825253
• gnomAD v3: 10-71785004-T-C
• gnomAD v4: 10-71785004-T-C
• MyVariant Identifiers: chr10:g.73544761T>C (hg19) ; chr10:g.71785004T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71785004T>C , CM000672.2:g.71785004T>C	GRCh38
NC_000010.10:g.73544761T>C , CM000672.1:g.73544761T>C	GRCh37
NC_000010.9:g.73214767T>C	NCBI36
NG_008835.1:g.393058T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.5616T>C MANE Select	ENSP00000224721.9:p.His1872=
ENST00000224721.10:c.5631T>C	ENSP00000224721.8:p.His1877=
ENST00000622827.4:c.5616T>C	ENSP00000483211.1:p.His1872=
NM_022124.5:c.5616T>C	NP_071407.4:p.His1872=
XM_006717940.2:c.5811T>C	XP_006718003.1:p.His1937=
XM_006717942.2:c.5745T>C	XP_006718005.1:p.His1915=
XM_011540039.1:c.5808T>C	XP_011538341.1:p.His1936=
XM_011540040.1:c.5805T>C	XP_011538342.1:p.His1935=
XM_011540041.1:c.5751T>C	XP_011538343.1:p.His1917=
XM_011540042.1:c.5811T>C	XP_011538344.1:p.His1937=
XM_011540043.1:c.5811T>C	XP_011538345.1:p.His1937=
XM_011540044.1:c.5676T>C	XP_011538346.1:p.His1892=
XM_011540045.1:c.5811T>C	XP_011538347.1:p.His1937=
XM_011540046.1:c.5271T>C	XP_011538348.1:p.His1757=
XM_011540047.1:c.4629T>C	XP_011538349.1:p.His1543=
XM_011540048.1:c.5811T>C	XP_011538350.1:p.His1937=
XM_011540049.1:c.5811T>C	XP_011538351.1:p.His1937=
XM_011540050.1:c.5811T>C	XP_011538352.1:p.His1937=
XM_011540051.1:c.5811T>C	XP_011538353.1:p.His1937=
XM_011540052.1:c.2139T>C	XP_011538354.1:p.His713=
XM_011540053.1:c.5811T>C	XP_011538355.1:p.His1937=
XR_945796.1:n.6054T>C
NM_022124.6:c.5616T>C MANE Select	NP_071407.4:p.His1872=