Canonical Allele Identifier: CA5545084

Gene: CDH23

Linked Data

• ClinVar Variation Id: 2177567
• ClinVar RCV Id: RCV002610490
• dbSNP Id: rs776890902
• ExAC: 10:73500621 C / G
• gnomAD v2: 10-73500621-C-G
• gnomAD v3: 10-71740864-C-G
• gnomAD v4: 10-71740864-C-G
• MyVariant Identifiers: chr10:g.73500621C>G (hg19) ; chr10:g.71740864C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71740864C>G , CM000672.2:g.71740864C>G	GRCh38
NC_000010.10:g.73500621C>G , CM000672.1:g.73500621C>G	GRCh37
NC_000010.9:g.73170627C>G	NCBI36
NG_008835.1:g.348918C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.4531C>G MANE Select	ENSP00000224721.9:p.His1511Asp
ENST00000224721.10:c.4546C>G	ENSP00000224721.8:p.His1516Asp
ENST00000398792.3:n.1220C>G
ENST00000622827.4:c.4531C>G	ENSP00000483211.1:p.His1511Asp
NM_022124.5:c.4531C>G	NP_071407.4:p.His1511Asp
XM_006717940.2:c.4726C>G	XP_006718003.1:p.His1576Asp
XM_006717942.2:c.4660C>G	XP_006718005.1:p.His1554Asp
XM_011540039.1:c.4723C>G	XP_011538341.1:p.His1575Asp
XM_011540040.1:c.4720C>G	XP_011538342.1:p.His1574Asp
XM_011540041.1:c.4666C>G	XP_011538343.1:p.His1556Asp
XM_011540042.1:c.4726C>G	XP_011538344.1:p.His1576Asp
XM_011540043.1:c.4726C>G	XP_011538345.1:p.His1576Asp
XM_011540044.1:c.4591C>G	XP_011538346.1:p.His1531Asp
XM_011540045.1:c.4726C>G	XP_011538347.1:p.His1576Asp
XM_011540046.1:c.4186C>G	XP_011538348.1:p.His1396Asp
XM_011540047.1:c.3544C>G	XP_011538349.1:p.His1182Asp
XM_011540048.1:c.4726C>G	XP_011538350.1:p.His1576Asp
XM_011540049.1:c.4726C>G	XP_011538351.1:p.His1576Asp
XM_011540050.1:c.4726C>G	XP_011538352.1:p.His1576Asp
XM_011540051.1:c.4726C>G	XP_011538353.1:p.His1576Asp
XM_011540052.1:c.1054C>G	XP_011538354.1:p.His352Asp
XM_011540053.1:c.4726C>G	XP_011538355.1:p.His1576Asp
XR_945796.1:n.4969C>G
NM_022124.6:c.4531C>G MANE Select	NP_071407.4:p.His1511Asp