Canonical Allele Identifier: CA11500622
Gene: CACNA2D3 HGNC NCBI

Linked Data

dbSNP Id: rs13064588
gnomAD v2: 3-54632547-T-A
gnomAD v3: 3-54598520-T-A
gnomAD v4: 3-54598520-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.54598520T>A , CM000665.2:g.54598520T>A GRCh38
NC_000003.11:g.54632547T>A , CM000665.1:g.54632547T>A GRCh37
NC_000003.10:g.54607587T>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000474759.6:c.963+16643T>A MANE Select ENSP00000419101.1:n.963+16643T>A
ENST00000288197.9:c.963+16643T>A ENSP00000288197.5:n.963+16643T>A
ENST00000415676.6:c.963+16643T>A ENSP00000389506.2:n.963+16643T>A
ENST00000468658.1:c.*377+16643T>A ENSP00000417455.1:n.*377+16643T>A
ENST00000471363.5:c.681+16643T>A ENSP00000418228.1:n.681+16643T>A
ENST00000474759.5:c.963+16643T>A ENSP00000419101.1:n.963+16643T>A
ENST00000477024.5:c.681+16643T>A ENSP00000417318.1:n.681+16643T>A
ENST00000490478.5:c.681+16643T>A ENSP00000417279.1:n.681+16643T>A
ENST00000620722.4:c.681+16643T>A ENSP00000478969.1:n.681+16643T>A
NM_018398.2:c.963+16643T>A NP_060868.2:n.963+16643T>A
XM_005265318.1:c.963+16643T>A XP_005265375.1:n.963+16643T>A
XM_011533946.1:c.963+16643T>A XP_011532248.1:n.963+16643T>A
XM_011533947.1:c.963+16643T>A XP_011532249.1:n.963+16643T>A
XM_011533948.1:c.963+16643T>A XP_011532250.1:n.963+16643T>A
XM_011533949.1:c.963+16643T>A XP_011532251.1:n.963+16643T>A
XM_011533950.1:c.963+16643T>A XP_011532252.1:n.963+16643T>A
XM_011533951.1:c.963+16643T>A XP_011532253.1:n.963+16643T>A
XM_011533952.1:c.963+16643T>A XP_011532254.1:n.963+16643T>A
XM_011533953.1:c.963+16643T>A XP_011532255.1:n.963+16643T>A
XR_427281.1:n.1084+16643T>A
XR_427282.2:n.1084+16643T>A
XR_940472.1:n.1084+16643T>A
XR_940473.1:n.1084+16643T>A
XM_005265318.2:c.963+16643T>A XP_005265375.1:n.963+16643T>A
XM_011533946.2:c.963+16643T>A XP_011532248.1:n.963+16643T>A
XM_011533947.2:c.963+16643T>A XP_011532249.1:n.963+16643T>A
XM_011533949.2:c.963+16643T>A XP_011532251.1:n.963+16643T>A
XM_011533950.2:c.963+16643T>A XP_011532252.1:n.963+16643T>A
XM_011533951.2:c.963+16643T>A XP_011532253.1:n.963+16643T>A
XM_011533952.2:c.963+16643T>A XP_011532254.1:n.963+16643T>A
XM_011533953.2:c.963+16643T>A XP_011532255.1:n.963+16643T>A
XM_017006850.1:c.963+16643T>A XP_016862339.1:n.963+16643T>A
XM_017006851.2:c.432+16643T>A XP_016862340.1:n.432+16643T>A
XM_017006852.1:c.963+16643T>A XP_016862341.1:n.963+16643T>A
XM_024453640.1:c.681+16643T>A XP_024309408.1:n.681+16643T>A
XR_001740203.1:n.1083+16643T>A
XR_001740204.1:n.1083+16643T>A
XR_001740205.1:n.1083+16643T>A
XR_002959549.1:n.1083+16643T>A
XR_427281.2:n.1083+16643T>A
XR_940472.2:n.1083+16643T>A
XR_940473.2:n.1083+16643T>A
NM_018398.3:c.963+16643T>A MANE Select NP_060868.2:n.963+16643T>A