Canonical Allele Identifier: CA470069257

Gene: CDH23

Linked Data

• ClinVar Variation Id: 1094275
• ClinVar RCV Id: RCV001414716
• dbSNP Id: rs1464694682
• gnomAD v2: 10-73500692-T-C
• gnomAD v3: 10-71740935-T-C
• gnomAD v4: 10-71740935-T-C
• MyVariant Identifiers: chr10:g.73500692T>C (hg19) ; chr10:g.71740935T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71740935T>C , CM000672.2:g.71740935T>C	GRCh38
NC_000010.10:g.73500692T>C , CM000672.1:g.73500692T>C	GRCh37
NC_000010.9:g.73170698T>C	NCBI36
NG_008835.1:g.348989T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.4602T>C MANE Select	ENSP00000224721.9:p.Asn1534=
ENST00000224721.10:c.4617T>C	ENSP00000224721.8:p.Asn1539=
ENST00000398792.3:n.1291T>C
ENST00000622827.4:c.4602T>C	ENSP00000483211.1:p.Asn1534=
NM_022124.5:c.4602T>C	NP_071407.4:p.Asn1534=
XM_006717940.2:c.4797T>C	XP_006718003.1:p.Asn1599=
XM_006717942.2:c.4731T>C	XP_006718005.1:p.Asn1577=
XM_011540039.1:c.4794T>C	XP_011538341.1:p.Asn1598=
XM_011540040.1:c.4791T>C	XP_011538342.1:p.Asn1597=
XM_011540041.1:c.4737T>C	XP_011538343.1:p.Asn1579=
XM_011540042.1:c.4797T>C	XP_011538344.1:p.Asn1599=
XM_011540043.1:c.4797T>C	XP_011538345.1:p.Asn1599=
XM_011540044.1:c.4662T>C	XP_011538346.1:p.Asn1554=
XM_011540045.1:c.4797T>C	XP_011538347.1:p.Asn1599=
XM_011540046.1:c.4257T>C	XP_011538348.1:p.Asn1419=
XM_011540047.1:c.3615T>C	XP_011538349.1:p.Asn1205=
XM_011540048.1:c.4797T>C	XP_011538350.1:p.Asn1599=
XM_011540049.1:c.4797T>C	XP_011538351.1:p.Asn1599=
XM_011540050.1:c.4797T>C	XP_011538352.1:p.Asn1599=
XM_011540051.1:c.4797T>C	XP_011538353.1:p.Asn1599=
XM_011540052.1:c.1125T>C	XP_011538354.1:p.Asn375=
XM_011540053.1:c.4797T>C	XP_011538355.1:p.Asn1599=
XR_945796.1:n.5040T>C
NM_022124.6:c.4602T>C MANE Select	NP_071407.4:p.Asn1534=