Canonical Allele Identifier: CA377160764

Gene: CDH23

Linked Data

• ClinVar Variation Id: 1035696
• ClinVar RCV Id: RCV001338597
• dbSNP Id: rs1293668670
• gnomAD v2: 10-73500691-A-G
• gnomAD v3: 10-71740934-A-G
• gnomAD v4: 10-71740934-A-G
• MyVariant Identifiers: chr10:g.73500691A>G (hg19) ; chr10:g.71740934A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71740934A>G , CM000672.2:g.71740934A>G	GRCh38
NC_000010.10:g.73500691A>G , CM000672.1:g.73500691A>G	GRCh37
NC_000010.9:g.73170697A>G	NCBI36
NG_008835.1:g.348988A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.4601A>G MANE Select	ENSP00000224721.9:p.Asn1534Ser
ENST00000224721.10:c.4616A>G	ENSP00000224721.8:p.Asn1539Ser
ENST00000398792.3:n.1290A>G
ENST00000622827.4:c.4601A>G	ENSP00000483211.1:p.Asn1534Ser
NM_022124.5:c.4601A>G	NP_071407.4:p.Asn1534Ser
XM_006717940.2:c.4796A>G	XP_006718003.1:p.Asn1599Ser
XM_006717942.2:c.4730A>G	XP_006718005.1:p.Asn1577Ser
XM_011540039.1:c.4793A>G	XP_011538341.1:p.Asn1598Ser
XM_011540040.1:c.4790A>G	XP_011538342.1:p.Asn1597Ser
XM_011540041.1:c.4736A>G	XP_011538343.1:p.Asn1579Ser
XM_011540042.1:c.4796A>G	XP_011538344.1:p.Asn1599Ser
XM_011540043.1:c.4796A>G	XP_011538345.1:p.Asn1599Ser
XM_011540044.1:c.4661A>G	XP_011538346.1:p.Asn1554Ser
XM_011540045.1:c.4796A>G	XP_011538347.1:p.Asn1599Ser
XM_011540046.1:c.4256A>G	XP_011538348.1:p.Asn1419Ser
XM_011540047.1:c.3614A>G	XP_011538349.1:p.Asn1205Ser
XM_011540048.1:c.4796A>G	XP_011538350.1:p.Asn1599Ser
XM_011540049.1:c.4796A>G	XP_011538351.1:p.Asn1599Ser
XM_011540050.1:c.4796A>G	XP_011538352.1:p.Asn1599Ser
XM_011540051.1:c.4796A>G	XP_011538353.1:p.Asn1599Ser
XM_011540052.1:c.1124A>G	XP_011538354.1:p.Asn375Ser
XM_011540053.1:c.4796A>G	XP_011538355.1:p.Asn1599Ser
XR_945796.1:n.5039A>G
NM_022124.6:c.4601A>G MANE Select	NP_071407.4:p.Asn1534Ser