Canonical Allele Identifier: CA209466072

Gene: CDH23

Linked Data

• ClinVar Variation Id: 2415857
• ClinVar RCV Id: RCV003105069
• dbSNP Id: rs896709276
• gnomAD v2: 10-73553082-G-A
• gnomAD v3: 10-71793325-G-A
• gnomAD v4: 10-71793325-G-A
• MyVariant Identifiers: chr10:g.73553082G>A (hg19) ; chr10:g.71793325G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71793325G>A , CM000672.2:g.71793325G>A	GRCh38
NC_000010.10:g.73553082G>A , CM000672.1:g.73553082G>A	GRCh37
NC_000010.9:g.73223088G>A	NCBI36
NG_008835.1:g.401379G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.6397G>A MANE Select	ENSP00000224721.9:p.Asp2133Asn
ENST00000224721.10:c.6412G>A	ENSP00000224721.8:p.Asp2138Asn
ENST00000622827.4:c.6397G>A	ENSP00000483211.1:p.Asp2133Asn
NM_022124.5:c.6397G>A	NP_071407.4:p.Asp2133Asn
XM_006717940.2:c.6592G>A	XP_006718003.1:p.Asp2198Asn
XM_006717942.2:c.6526G>A	XP_006718005.1:p.Asp2176Asn
XM_011540039.1:c.6589G>A	XP_011538341.1:p.Asp2197Asn
XM_011540040.1:c.6586G>A	XP_011538342.1:p.Asp2196Asn
XM_011540041.1:c.6532G>A	XP_011538343.1:p.Asp2178Asn
XM_011540042.1:c.6577+15G>A	XP_011538344.1:n.6577+15G>A
XM_011540043.1:c.6592G>A	XP_011538345.1:p.Asp2198Asn
XM_011540044.1:c.6457G>A	XP_011538346.1:p.Asp2153Asn
XM_011540045.1:c.6592G>A	XP_011538347.1:p.Asp2198Asn
XM_011540046.1:c.6052G>A	XP_011538348.1:p.Asp2018Asn
XM_011540047.1:c.5410G>A	XP_011538349.1:p.Asp1804Asn
XM_011540048.1:c.6592G>A	XP_011538350.1:p.Asp2198Asn
XM_011540049.1:c.6592G>A	XP_011538351.1:p.Asp2198Asn
XM_011540050.1:c.6592G>A	XP_011538352.1:p.Asp2198Asn
XM_011540051.1:c.6592G>A	XP_011538353.1:p.Asp2198Asn
XM_011540052.1:c.2920G>A	XP_011538354.1:p.Asp974Asn
XR_945796.1:n.6835G>A
NM_022124.6:c.6397G>A MANE Select	NP_071407.4:p.Asp2133Asn