Canonical Allele Identifier: CA368807079
Gene: CDHR3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.106018037C>A , CM000669.2:g.106018037C>A GRCh38
NC_000007.13:g.105658483C>A , CM000669.1:g.105658483C>A GRCh37
NC_000007.12:g.105445719C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000317716.14:c.1618C>A MANE Select ENSP00000325954.9:p.Gln540Lys
ENST00000317716.13:c.1618C>A ENSP00000325954.9:p.Gln540Lys
ENST00000466045.1:c.700+2012C>A ENSP00000419017.1:n.700+2012C>A
ENST00000468477.1:c.60-2336C>A
ENST00000470188.5:n.1849+2012C>A
ENST00000478080.5:c.1354C>A ENSP00000417771.1:p.Gln452Lys
NM_001301161.1:c.1354C>A NP_001288090.1:p.Gln452Lys
NM_152750.4:c.1618C>A NP_689963.2:p.Gln540Lys
XM_005250224.3:c.1354C>A XP_005250281.1:p.Gln452Lys
XM_005250225.1:c.1618C>A XP_005250282.1:p.Gln540Lys
XM_005250226.1:c.562C>A XP_005250283.1:p.Gln188Lys
XM_006715905.1:c.1426+2012C>A XP_006715968.1:n.1426+2012C>A
XM_006715906.2:c.1072C>A XP_006715969.1:p.Gln358Lys
XM_011515955.1:c.1618C>A XP_011514257.1:p.Gln540Lys
XM_011515956.1:c.1072C>A XP_011514258.1:p.Gln358Lys
XM_011515957.1:c.1618C>A XP_011514259.1:p.Gln540Lys
XM_011515958.1:c.1426+2012C>A XP_011514260.1:n.1426+2012C>A
XM_011515959.1:c.562C>A XP_011514261.1:p.Gln188Lys
XR_927414.1:n.1694C>A
XM_005250224.5:c.1354C>A XP_005250281.1:p.Gln452Lys
XM_005250225.2:c.1618C>A XP_005250282.1:p.Gln540Lys
XM_006715905.2:c.1426+2012C>A XP_006715968.1:n.1426+2012C>A
XM_011515955.2:c.1618C>A XP_011514257.1:p.Gln540Lys
XM_011515956.2:c.1072C>A XP_011514258.1:p.Gln358Lys
XM_011515957.2:c.1618C>A XP_011514259.1:p.Gln540Lys
XM_011515958.2:c.1426+2012C>A XP_011514260.1:n.1426+2012C>A
XM_011515959.2:c.562C>A XP_011514261.1:p.Gln188Lys
XM_017011862.1:c.1618C>A XP_016867351.1:p.Gln540Lys
XM_017011863.2:c.1072C>A XP_016867352.1:p.Gln358Lys
XM_017011864.1:c.1072C>A XP_016867353.1:p.Gln358Lys
XM_017011865.2:c.1162+2012C>A XP_016867354.1:n.1162+2012C>A
XM_017011866.2:c.769C>A XP_016867355.1:p.Gln257Lys
XM_017011867.2:c.880+2012C>A XP_016867356.1:n.880+2012C>A
XM_024446689.1:c.562C>A XP_024302457.1:p.Gln188Lys
XM_024446690.1:c.577+2012C>A XP_024302458.1:n.577+2012C>A
XR_001744598.1:n.1694C>A
XR_001744600.2:n.1694C>A
XR_001744601.2:n.1694C>A
XR_001744602.1:n.1711C>A
XR_001744603.2:n.1711C>A
XR_001744604.2:n.1502+2012C>A
XR_001744605.2:n.1502+2012C>A
XR_001744606.2:n.1502+2012C>A
XR_001744607.2:n.1502+2012C>A
XR_927414.2:n.1694C>A
NM_152750.5:c.1618C>A MANE Select NP_689963.2:p.Gln540Lys
NM_001301161.2:c.1354C>A NP_001288090.1:p.Gln452Lys