Canonical Allele Identifier: CA5545818

Gene: CDH23

Linked Data

• ClinVar Variation Id: 1404452
• ClinVar RCV Id: RCV001901651
• dbSNP Id: rs764112842
• ExAC: 10:73544766 T / G
• gnomAD v2: 10-73544766-T-G
• gnomAD v3: 10-71785009-T-G
• gnomAD v4: 10-71785009-T-G
• MyVariant Identifiers: chr10:g.73544766T>G (hg19) ; chr10:g.71785009T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71785009T>G , CM000672.2:g.71785009T>G	GRCh38
NC_000010.10:g.73544766T>G , CM000672.1:g.73544766T>G	GRCh37
NC_000010.9:g.73214772T>G	NCBI36
NG_008835.1:g.393063T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.5621T>G MANE Select	ENSP00000224721.9:p.Leu1874Arg
ENST00000224721.10:c.5636T>G	ENSP00000224721.8:p.Leu1879Arg
ENST00000622827.4:c.5621T>G	ENSP00000483211.1:p.Leu1874Arg
NM_022124.5:c.5621T>G	NP_071407.4:p.Leu1874Arg
XM_006717940.2:c.5816T>G	XP_006718003.1:p.Leu1939Arg
XM_006717942.2:c.5750T>G	XP_006718005.1:p.Leu1917Arg
XM_011540039.1:c.5813T>G	XP_011538341.1:p.Leu1938Arg
XM_011540040.1:c.5810T>G	XP_011538342.1:p.Leu1937Arg
XM_011540041.1:c.5756T>G	XP_011538343.1:p.Leu1919Arg
XM_011540042.1:c.5816T>G	XP_011538344.1:p.Leu1939Arg
XM_011540043.1:c.5816T>G	XP_011538345.1:p.Leu1939Arg
XM_011540044.1:c.5681T>G	XP_011538346.1:p.Leu1894Arg
XM_011540045.1:c.5816T>G	XP_011538347.1:p.Leu1939Arg
XM_011540046.1:c.5276T>G	XP_011538348.1:p.Leu1759Arg
XM_011540047.1:c.4634T>G	XP_011538349.1:p.Leu1545Arg
XM_011540048.1:c.5816T>G	XP_011538350.1:p.Leu1939Arg
XM_011540049.1:c.5816T>G	XP_011538351.1:p.Leu1939Arg
XM_011540050.1:c.5816T>G	XP_011538352.1:p.Leu1939Arg
XM_011540051.1:c.5816T>G	XP_011538353.1:p.Leu1939Arg
XM_011540052.1:c.2144T>G	XP_011538354.1:p.Leu715Arg
XM_011540053.1:c.5816T>G	XP_011538355.1:p.Leu1939Arg
XR_945796.1:n.6059T>G
NM_022124.6:c.5621T>G MANE Select	NP_071407.4:p.Leu1874Arg