Canonical Allele Identifier: CA509180
Gene: AGRN HGNC NCBI

Linked Data

ClinVar Variation Id: 547973
ClinVar RCV Id: RCV000660570
dbSNP Id: rs764139323
gnomAD v2: 1-983186-G-A
gnomAD v3: 1-1047806-G-A
gnomAD v4: 1-1047806-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1047806G>A , CM000663.2:g.1047806G>A GRCh38
NC_000001.10:g.983186G>A , CM000663.1:g.983186G>A GRCh37
NC_000001.9:g.973049G>A NCBI36
NG_016346.1:g.32684G>A , LRG_198:g.32684G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379370.7:c.3662G>A MANE Select ENSP00000368678.2:p.Arg1221Gln
ENST00000651234.1:c.3347G>A ENSP00000499046.1:p.Arg1116Gln
ENST00000652369.1:c.3347G>A ENSP00000498543.1:p.Arg1116Gln
ENST00000379370.6:c.3662G>A ENSP00000368678.2:p.Arg1221Gln
ENST00000466223.1:n.400G>A
ENST00000478677.1:n.244G>A
ENST00000620552.4:c.3248G>A ENSP00000484607.1:p.Arg1083Gln
NM_001305275.1:c.3662G>A NP_001292204.1:p.Arg1221Gln
NM_198576.3:c.3662G>A NP_940978.2:p.Arg1221Gln
XM_005244749.2:c.3662G>A XP_005244806.1:p.Arg1221Gln
XM_006710635.2:c.3662G>A XP_006710698.1:p.Arg1221Gln
XM_011541429.1:c.3662G>A XP_011539731.1:p.Arg1221Gln
XM_011541430.1:c.2789G>A XP_011539732.1:p.Arg930Gln
XM_011541431.1:c.1928G>A XP_011539733.1:p.Arg643Gln
XR_946650.1:n.3729G>A
NM_001364727.1:c.3347G>A NP_001351656.1:p.Arg1116Gln
XM_005244749.3:c.3662G>A XP_005244806.1:p.Arg1221Gln
XM_011541429.2:c.3662G>A XP_011539731.1:p.Arg1221Gln
XR_946650.2:n.3733G>A
NM_001305275.2:c.3662G>A NP_001292204.1:p.Arg1221Gln
NM_198576.4:c.3662G>A MANE Select NP_940978.2:p.Arg1221Gln
NM_001364727.2:c.3347G>A NP_001351656.1:p.Arg1116Gln