Canonical Allele Identifier: CA377147137

Gene: CDH23

Linked Data

• ClinVar Variation Id: 2149982
• ClinVar RCV Id: RCV003065758
• dbSNP Id: rs1483080564
• gnomAD v2: 10-73544831-G-A
• gnomAD v3: 10-71785074-G-A
• gnomAD v4: 10-71785074-G-A
• COSMIC: COSM3867761
• MyVariant Identifiers: chr10:g.73544831G>A (hg19) ; chr10:g.71785074G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71785074G>A , CM000672.2:g.71785074G>A	GRCh38
NC_000010.10:g.73544831G>A , CM000672.1:g.73544831G>A	GRCh37
NC_000010.9:g.73214837G>A	NCBI36
NG_008835.1:g.393128G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.5686G>A MANE Select	ENSP00000224721.9:p.Glu1896Lys
ENST00000224721.10:c.5701G>A	ENSP00000224721.8:p.Glu1901Lys
ENST00000622827.4:c.5686G>A	ENSP00000483211.1:p.Glu1896Lys
NM_022124.5:c.5686G>A	NP_071407.4:p.Glu1896Lys
XM_006717940.2:c.5881G>A	XP_006718003.1:p.Glu1961Lys
XM_006717942.2:c.5815G>A	XP_006718005.1:p.Glu1939Lys
XM_011540039.1:c.5878G>A	XP_011538341.1:p.Glu1960Lys
XM_011540040.1:c.5875G>A	XP_011538342.1:p.Glu1959Lys
XM_011540041.1:c.5821G>A	XP_011538343.1:p.Glu1941Lys
XM_011540042.1:c.5881G>A	XP_011538344.1:p.Glu1961Lys
XM_011540043.1:c.5881G>A	XP_011538345.1:p.Glu1961Lys
XM_011540044.1:c.5746G>A	XP_011538346.1:p.Glu1916Lys
XM_011540045.1:c.5881G>A	XP_011538347.1:p.Glu1961Lys
XM_011540046.1:c.5341G>A	XP_011538348.1:p.Glu1781Lys
XM_011540047.1:c.4699G>A	XP_011538349.1:p.Glu1567Lys
XM_011540048.1:c.5881G>A	XP_011538350.1:p.Glu1961Lys
XM_011540049.1:c.5881G>A	XP_011538351.1:p.Glu1961Lys
XM_011540050.1:c.5881G>A	XP_011538352.1:p.Glu1961Lys
XM_011540051.1:c.5881G>A	XP_011538353.1:p.Glu1961Lys
XM_011540052.1:c.2209G>A	XP_011538354.1:p.Glu737Lys
XM_011540053.1:c.5881G>A	XP_011538355.1:p.Glu1961Lys
XR_945796.1:n.6124G>A
NM_022124.6:c.5686G>A MANE Select	NP_071407.4:p.Glu1896Lys