Canonical Allele Identifier: CA377146231

Gene: CDH23

Linked Data

• ClinVar Variation Id: 1479011
• ClinVar RCV Id: RCV001990844
• dbSNP Id: rs2132939100
• gnomAD v4: 10-71784894-C-G
• MyVariant Identifiers: chr10:g.73544651C>G (hg19) ; chr10:g.71784894C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71784894C>G , CM000672.2:g.71784894C>G	GRCh38
NC_000010.10:g.73544651C>G , CM000672.1:g.73544651C>G	GRCh37
NC_000010.9:g.73214657C>G	NCBI36
NG_008835.1:g.392948C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.5506C>G MANE Select	ENSP00000224721.9:p.Leu1836Val
ENST00000224721.10:c.5521C>G	ENSP00000224721.8:p.Leu1841Val
ENST00000622827.4:c.5506C>G	ENSP00000483211.1:p.Leu1836Val
NM_022124.5:c.5506C>G	NP_071407.4:p.Leu1836Val
XM_006717940.2:c.5701C>G	XP_006718003.1:p.Leu1901Val
XM_006717942.2:c.5635C>G	XP_006718005.1:p.Leu1879Val
XM_011540039.1:c.5698C>G	XP_011538341.1:p.Leu1900Val
XM_011540040.1:c.5695C>G	XP_011538342.1:p.Leu1899Val
XM_011540041.1:c.5641C>G	XP_011538343.1:p.Leu1881Val
XM_011540042.1:c.5701C>G	XP_011538344.1:p.Leu1901Val
XM_011540043.1:c.5701C>G	XP_011538345.1:p.Leu1901Val
XM_011540044.1:c.5566C>G	XP_011538346.1:p.Leu1856Val
XM_011540045.1:c.5701C>G	XP_011538347.1:p.Leu1901Val
XM_011540046.1:c.5161C>G	XP_011538348.1:p.Leu1721Val
XM_011540047.1:c.4519C>G	XP_011538349.1:p.Leu1507Val
XM_011540048.1:c.5701C>G	XP_011538350.1:p.Leu1901Val
XM_011540049.1:c.5701C>G	XP_011538351.1:p.Leu1901Val
XM_011540050.1:c.5701C>G	XP_011538352.1:p.Leu1901Val
XM_011540051.1:c.5701C>G	XP_011538353.1:p.Leu1901Val
XM_011540052.1:c.2029C>G	XP_011538354.1:p.Leu677Val
XM_011540053.1:c.5701C>G	XP_011538355.1:p.Leu1901Val
XR_945796.1:n.5944C>G
NM_022124.6:c.5506C>G MANE Select	NP_071407.4:p.Leu1836Val