Canonical Allele Identifier: CA368807227

Gene: CDHR3

Linked Data

• dbSNP Id: rs1451484633
• gnomAD v2: 7-105658514-T-C
• gnomAD v4: 7-106018068-T-C
• MyVariant Identifiers: chr7:g.105658514T>C (hg19) ; chr7:g.106018068T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.106018068T>C , CM000669.2:g.106018068T>C	GRCh38
NC_000007.13:g.105658514T>C , CM000669.1:g.105658514T>C	GRCh37
NC_000007.12:g.105445750T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317716.14:c.1649T>C MANE Select	ENSP00000325954.9:p.Val550Ala
ENST00000317716.13:c.1649T>C	ENSP00000325954.9:p.Val550Ala
ENST00000466045.1:c.700+2043T>C	ENSP00000419017.1:n.700+2043T>C
ENST00000468477.1:c.60-2305T>C
ENST00000470188.5:n.1849+2043T>C
ENST00000478080.5:c.1385T>C	ENSP00000417771.1:p.Val462Ala
NM_001301161.1:c.1385T>C	NP_001288090.1:p.Val462Ala
NM_152750.4:c.1649T>C	NP_689963.2:p.Val550Ala
XM_005250224.3:c.1385T>C	XP_005250281.1:p.Val462Ala
XM_005250225.1:c.1649T>C	XP_005250282.1:p.Val550Ala
XM_005250226.1:c.593T>C	XP_005250283.1:p.Val198Ala
XM_006715905.1:c.1426+2043T>C	XP_006715968.1:n.1426+2043T>C
XM_006715906.2:c.1103T>C	XP_006715969.1:p.Val368Ala
XM_011515955.1:c.1649T>C	XP_011514257.1:p.Val550Ala
XM_011515956.1:c.1103T>C	XP_011514258.1:p.Val368Ala
XM_011515957.1:c.1649T>C	XP_011514259.1:p.Val550Ala
XM_011515958.1:c.1426+2043T>C	XP_011514260.1:n.1426+2043T>C
XM_011515959.1:c.593T>C	XP_011514261.1:p.Val198Ala
XR_927414.1:n.1725T>C
XM_005250224.5:c.1385T>C	XP_005250281.1:p.Val462Ala
XM_005250225.2:c.1649T>C	XP_005250282.1:p.Val550Ala
XM_006715905.2:c.1426+2043T>C	XP_006715968.1:n.1426+2043T>C
XM_011515955.2:c.1649T>C	XP_011514257.1:p.Val550Ala
XM_011515956.2:c.1103T>C	XP_011514258.1:p.Val368Ala
XM_011515957.2:c.1649T>C	XP_011514259.1:p.Val550Ala
XM_011515958.2:c.1426+2043T>C	XP_011514260.1:n.1426+2043T>C
XM_011515959.2:c.593T>C	XP_011514261.1:p.Val198Ala
XM_017011862.1:c.1649T>C	XP_016867351.1:p.Val550Ala
XM_017011863.2:c.1103T>C	XP_016867352.1:p.Val368Ala
XM_017011864.1:c.1103T>C	XP_016867353.1:p.Val368Ala
XM_017011865.2:c.1162+2043T>C	XP_016867354.1:n.1162+2043T>C
XM_017011866.2:c.800T>C	XP_016867355.1:p.Val267Ala
XM_017011867.2:c.880+2043T>C	XP_016867356.1:n.880+2043T>C
XM_024446689.1:c.593T>C	XP_024302457.1:p.Val198Ala
XM_024446690.1:c.577+2043T>C	XP_024302458.1:n.577+2043T>C
XR_001744598.1:n.1725T>C
XR_001744600.2:n.1725T>C
XR_001744601.2:n.1725T>C
XR_001744602.1:n.1742T>C
XR_001744603.2:n.1742T>C
XR_001744604.2:n.1502+2043T>C
XR_001744605.2:n.1502+2043T>C
XR_001744606.2:n.1502+2043T>C
XR_001744607.2:n.1502+2043T>C
XR_927414.2:n.1725T>C
NM_152750.5:c.1649T>C MANE Select	NP_689963.2:p.Val550Ala
NM_001301161.2:c.1385T>C	NP_001288090.1:p.Val462Ala