Canonical Allele Identifier: CA337852723
Gene: AGRN HGNC NCBI

Linked Data

ClinVar Variation Id: 1475357
ClinVar RCV Id: RCV001976176
dbSNP Id: rs1236736432
gnomAD v2: 1-983500-G-A
gnomAD v3: 1-1048120-G-A
gnomAD v4: 1-1048120-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1048120G>A , CM000663.2:g.1048120G>A GRCh38
NC_000001.10:g.983500G>A , CM000663.1:g.983500G>A GRCh37
NC_000001.9:g.973363G>A NCBI36
NG_016346.1:g.32998G>A , LRG_198:g.32998G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379370.7:c.3860G>A MANE Select ENSP00000368678.2:p.Arg1287Gln
ENST00000651234.1:c.3545G>A ENSP00000499046.1:p.Arg1182Gln
ENST00000652369.1:c.3545G>A ENSP00000498543.1:p.Arg1182Gln
ENST00000379370.6:c.3860G>A ENSP00000368678.2:p.Arg1287Gln
ENST00000620552.4:c.3446G>A ENSP00000484607.1:p.Arg1149Gln
NM_001305275.1:c.3860G>A NP_001292204.1:p.Arg1287Gln
NM_198576.3:c.3860G>A NP_940978.2:p.Arg1287Gln
XM_005244749.2:c.3860G>A XP_005244806.1:p.Arg1287Gln
XM_006710635.2:c.3860G>A XP_006710698.1:p.Arg1287Gln
XM_011541429.1:c.3860G>A XP_011539731.1:p.Arg1287Gln
XM_011541430.1:c.2987G>A XP_011539732.1:p.Arg996Gln
XM_011541431.1:c.2126G>A XP_011539733.1:p.Arg709Gln
XR_946650.1:n.3927G>A
NM_001364727.1:c.3545G>A NP_001351656.1:p.Arg1182Gln
XM_005244749.3:c.3860G>A XP_005244806.1:p.Arg1287Gln
XM_011541429.2:c.3860G>A XP_011539731.1:p.Arg1287Gln
XR_946650.2:n.3931G>A
NM_001305275.2:c.3860G>A NP_001292204.1:p.Arg1287Gln
NM_198576.4:c.3860G>A MANE Select NP_940978.2:p.Arg1287Gln
NM_001364727.2:c.3545G>A NP_001351656.1:p.Arg1182Gln